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Journal articles on the topic 'Gyrate atrophy of the choroid and retina'

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Published: 9 March 2023

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1

Kaiser-Kupfer, Muriel I., Irene H. Ludwig, Francisco M. de Monasterio, David Valle, and Ingeborg Krieger. "Gyrate Atrophy of the Choroid and Retina." Ophthalmology 92, no. 3 (March 1985): 394–401. http://dx.doi.org/10.1016/s0161-6420(85)34022-8.

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2

Vannas-Sulonen, Kaarina, Ilkka Sipilä, Antti Vannas, Olli Simell, and Juhani Rapola. "Gyrate Atrophy of the Choroid and Retina." Ophthalmology 92, no. 12 (December 1985): 1719–27. http://dx.doi.org/10.1016/s0161-6420(85)34098-8.

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3

Vannas-Sulonen, Kaarina, Olli Simell, and Ilkka Sipilä. "Gyrate Atrophy of the Choroid and Retina." Ophthalmology 94, no. 11 (November 1987): 1428–33. http://dx.doi.org/10.1016/s0161-6420(87)33269-5.

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4

Kaiser-Kupfer, Muriel I. "Gyrate Atrophy of the Choroid and Retina." Archives of Ophthalmology 109, no. 11 (November 1, 1991): 1539. http://dx.doi.org/10.1001/archopht.1991.01080110075039.

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5

Kaiser-Kupfer, Muriel I. "Gyrate Atrophy of the Choroid and Retina." Archives of Ophthalmology 120, no. 2 (February 1, 2002): 146. http://dx.doi.org/10.1001/archopht.120.2.146.

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6

Jena, Soumya, Koushik Tripathy, Rohan Chawla, and Ahmad M. Mansour. "Ultrawide field imaging to document the progression of gyrate atrophy of the choroid and retina over 5 years." BMJ Case Reports 14, no. 8 (August 2021): e244695. http://dx.doi.org/10.1136/bcr-2021-244695.

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A family of three siblings affected with gyrate atrophy of the choroid and retina is presented. Ultrawide field fundus imaging was used to monitor the progression of the disease objectively over 5 years.

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7

Vannas-Sulonen, Kaarina. "Progression of gyrate atrophy of the choroid and retina." Acta Ophthalmologica 65, no. 1 (May 27, 2009): 101–9. http://dx.doi.org/10.1111/j.1755-3768.1987.tb08499.x.

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8

Berbel, Rodrigo Fabri, Paulo Igor Rauen, Raphael Frangiote Pallone, and Antônio Marcelo Barbante Casella. "Retinal detachment and gyrate atrophy of the choroid and retina: case report." Arquivos Brasileiros de Oftalmologia 75, no. 1 (February 2012): 59–60. http://dx.doi.org/10.1590/s0004-27492012000100012.

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9

Abeshi, Andi, Francesca Fanelli, Tommaso Beccari, Munis Dundar, Falsini Benedetto, and Matteo Bertelli. "Genetic testing for gyrate atrophy of the choroid and retina." EuroBiotech Journal 1, s1 (October 27, 2017): 54–56. http://dx.doi.org/10.24190/issn2564-615x/2017/s1.17.

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Abstract We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for gyrate atrophy of the choroid and retina (GACR). GACR is inherited in an autosomal recessive manner, and has a prevalence of 1/50000 in Finland. In the international literature there are approximately 200 biochemically confirmed cases. GACR is caused by mutations in the OAT gene. Clinical diagnosis involves ophthalmological examination, electrophysiological testing (electroretinography - ERG), coherence tomography and assay of ornithine levels in body fluids. The genetic test is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials.

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10

G, Satyavathi, Srinivas Y, and Malleswari Malleswari. "A CASE OF GYRATE ATROPHY OF THE CHOROID & RETINA." Journal of Evolution of Medical and Dental Sciences 4, no. 06 (January 19, 2015): 1059–62. http://dx.doi.org/10.14260/jemds/2015/148.

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11

Hayasaka, S., T. Shiono, K. Mizuno, C. Sasayama, S. Akiya, Y. Tanaka, M. Hayakawa, Y. Miyake, and N. Ohba. "Gyrate atrophy of the choroid and retina: 15 Japanese patients." British Journal of Ophthalmology 70, no. 8 (August 1, 1986): 612–14. http://dx.doi.org/10.1136/bjo.70.8.612.

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12

Bargum, Ralph. "Differential diagnosis of normoornithinaemic gyrate atrophy of the choroid and retina." Acta Ophthalmologica 64, no. 4 (May 27, 2009): 369–73. http://dx.doi.org/10.1111/j.1755-3768.1986.tb06937.x.

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13

Chao, Jonathan T., Prethy Rao, and John C. Hart. "Zonular weakness in patients with gyrate atrophy of the choroid and retina." JCRS Online Case Reports 5, no. 4 (October 2017): 69–72. http://dx.doi.org/10.1016/j.jcro.2017.10.002.

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14

VANNAS-SULONEN, KAARINA, ANTTI VANNAS, JAMES J. O'DONNELL, ILKKA SIPILÄ, and IRMGARD WOOD. "PATHOLOGY OF IRIDECTOMY SPECIMENS IN GYRATE ATROPHY OF THE RETINA AND CHOROID." Acta Ophthalmologica 61, no. 1 (May 27, 2009): 9–19. http://dx.doi.org/10.1111/j.1755-3768.1983.tb01389.x.

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15

Khan, M. Y., A. S. Ibraheim, and S. Firoozmand. "Gyrate atrophy of the choroid and retina with hyperornithinaemia, cystinuria and lysinuria." Eye 8, no. 3 (May 1994): 284–87. http://dx.doi.org/10.1038/eye.1994.58.

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16

Slassi, N., O. El Yamouni, A. Kapoli Wetshi, G. Soufi, A. Bernoussi, and A. Berraho. "A late discovery of familial gyrate atrophy of the choroid and retina." Journal Français d'Ophtalmologie 39, no. 4 (April 2016): e101-e103. http://dx.doi.org/10.1016/j.jfo.2015.01.027.

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17

Kasahara, M., T. Matsuzawa, M. Kokubo, Y. Gushiken, K. Tashiro, T. Koide, H. Watanabe, and N. Katunuma. "Immunohistochemical localization of ornithine aminotransferase in normal rat tissues by Fab'-horseradish peroxidase conjugates." Journal of Histochemistry & Cytochemistry 34, no. 11 (November 1986): 1385–88. http://dx.doi.org/10.1177/34.11.3534076.

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Immunohistochemical localization of ornithine aminotransferase (L-ornithine: 2-oxo-acid aminotransferase, EC 2.6.1.13), a mitochondrial enzyme whose hereditary absence induces gyrate atrophy of the choroid and retina, was elucidated by a direct immunoperoxidase method using Fab'-horseradish peroxidase conjugates. In immunodiffusion studies, the antibodies raised with the re-crystallized enzyme were highly specific to ornithine aminotransferase. To show localization of ornithine aminotransferase in normal rat tissues, clear immunohistochemical staining of this enzyme through the inner mitochondrial membrane in paraffin sections was achieved with Fab'-horseradish peroxidase conjugates. Strong immunoreactivity was present in cerebral neurons, hepatocytes, and epithelial cells of renal tubuli, gut mucous membranes, and ocular tissues. Specific distribution of ornithine aminotransferase was found in ependymal cell groups: namely, epithelial cells of the choroid plexus, pigmented and nonpigmented epithelial cells of the ciliary body. and Müller cells and pigment epithelium of the retina.

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18

Chandrasekaran, PriyaRasipuram. "Staging and optical coherence tomography characteristics of gyrate atrophy of choroid and retina." TNOA Journal of Ophthalmic Science and Research 59, no. 1 (2021): 98. http://dx.doi.org/10.4103/tjosr.tjosr_152_20.

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19

Galiot Delić, Martina, Petra Kristina Ivkić, Zlatko Juratovac, Sanja Perić, Tomislav Jukić, and Jelena Juri Mandić. "Cystoid macular edema in gyrate atrophy of choroid and retina associated with hyperornithinemia." Medicina Fluminensis 55, no. 2 (June 1, 2019): 179–84. http://dx.doi.org/10.21860/medflum2019_218805.

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Cilj: Cilj rada je prikazati klinički tijek, dijagnostiku i liječenje šestgodišnje djevojčice s giratnom atrofijom i obostranim cistoidnim edemom makule. Prikaz slučaja: U četverogodišnje djevojčice tijekom sistematskog pregleda nađeni su slabija vidna oštrina i konvergentni strabizam. Nakon dvogodišnjeg liječenja slabovidnosti primjećuje se obostrani makularni edem te se dijete upućuje na daljnju obradu na Kliniku za oftalmologiju. Djevojčica je tada imala vidnu oštrinu 0.15 na oba oka, obostrani edem makule i ovalne zone korioretinalne atrofije na periferiji mrežnice. Uvedena je antiedematozna terapija. Učinjena je cjelovita klinička i laboratorijska obrada i u plazmi nađena visoka koncentracija ornitina, te je postavljena dijagnoza giratne atrofije (GA) korioretine. U terapiju je uveden piridoksin (vitamin B6). Po terapiji je došlo do neznatnog smanjenja koncentracije ornitina u plazmi te je uvedena i prehrana s ograničenim unosom proteina kojom se također nije postigao željeni učinak. Naposljetku je uz navedeno započeto liječenje aminokiselinom L-lizinom. Kombinacija navedenih terapijskih mjera dovela je do značajnog smanjenja koncentracije ornitina u plazmi, koja je smanjena na oko trećinu u odnosu na koncentracije prije početka liječenja. Uz laboratorijske pokazatelje bolje kontrole bolesti zamijećeno je prolazno kliničko poboljšanje, smanjenje makularnog edema, ali se progresija perifernih atrofičnih lezija nije zaustavila. Zaključak: Cistoidni edem makule u pacijenata s giratnom atrofijom praćen je oslabljenom vidnom oštrinom. Unatoč intenzivnom liječenju edem makule perzistira te je vidljiva daljnja progresija atrofičnih žarišta na periferiji fundusa. Smanjenje koncentracija ornitina u plazmi bitan je preduvjet za usporenje progresije bolesti i odgađanje trajnog gubitka vidne funkcije.

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20

Peltola, K. E., S. Jaaskelainen, O. J. Heinonen, B. Falck, K. Nanto-Salonen, K. Heinanen, and O. Simell. "Peripheral nervous system in gyrate atrophy of the choroid and retina with hyperornithinemia." Neurology 59, no. 5 (September 10, 2002): 735–40. http://dx.doi.org/10.1212/wnl.59.5.735.

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21

Nanto-Salonen, K., M. Komu, N. Lundbom, K. Heinanen, A. Alanen, I. Sipila, and O. Simell. "Reduced brain creatine in gyrate atrophy of the choroid and retina with hyperornithinemia." Neurology 53, no. 2 (July 1, 1999): 303. http://dx.doi.org/10.1212/wnl.53.2.303.

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22

Fois, A., P. Borgogni, M. Cioni, G. M. S. Mancini, M. Molinelli, M. Pizzetti, A. M. Bardelli, et al. "Gyrate atrophy of the choroid and retina: 3 cases in one Italian family." Journal of Inherited Metabolic Disease 9, S2 (June 1986): 272–74. http://dx.doi.org/10.1007/bf01799726.

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23

Rigante, Donato, Maria Cristina Savastano, Antonio Leone, Benedetto Falsini, Antonio Baldascino, Ilaria La Torraca, Domenico Lepore, Alessia De Nisco, Emanuela Sacco, and Angelo Maria Minnella. "Occipital porencephaly in a child with gyrate atrophy of the choroid and retina." Journal of American Association for Pediatric Ophthalmology and Strabismus 14, no. 5 (October 2010): 462–64. http://dx.doi.org/10.1016/j.jaapos.2010.07.011.

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24

Mehta, Mehul C., Osamu Katsumi, Vivian E. Shih, and Tatsuo Hirose. "Gyrate atrophy of the choroid and retina in a 5-year-old girl." Acta Ophthalmologica 69, no. 6 (May 27, 2009): 810–14. http://dx.doi.org/10.1111/j.1755-3768.1991.tb02067.x.

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25

Doimo, Mara, Maria Andrea Desbats, Maria Cristina Baldoin, Elisabetta Lenzini, Giuseppe Basso, Elaine Murphy, Claudio Graziano, et al. "Functional Analysis of Missense Mutations ofOAT, Causing Gyrate Atrophy of Choroid and Retina." Human Mutation 34, no. 1 (October 17, 2012): 229–36. http://dx.doi.org/10.1002/humu.22233.

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26

Zolnikova, I. V., S. V. Milash, R. A. Zinchenko, A. V. Polyakov, A. A. Stepanova, A. B. Chernyak, A. A. Sianosyan, I. V. Egorova, and V. V. Kadyshev. "Gyrate atrophy of the choroid and retina with ornithinemia and foveoschisis (clinical observation)." Vestnik oftal'mologii 138, no. 5 (2022): 80. http://dx.doi.org/10.17116/oftalma202213805180.

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27

Raitta, C., S. Carlson, and K. Vannas-Sulonen. "Gyrate atrophy of the choroid and retina: ERG of the neural retina and the pigment epithelium." British Journal of Ophthalmology 74, no. 6 (June 1, 1990): 363–67. http://dx.doi.org/10.1136/bjo.74.6.363.

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28

FELDMAN, ROBERT B., SUSAN S. MAYO, DENNIS M. ROBERTSON, JAMES D. JONES, and JAY A. ROSTVOLD. "EPIRETINAL MEMBRANES AND CYSTOID MACULAR EDEMA IN GYRATE ATROPHY OF THE CHOROID AND RETINA." Retina 9, no. 2 (1989): 139–42. http://dx.doi.org/10.1097/00006982-198909020-00014.

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29

Christopher, R., S. V. S. Babu, and K. T. Shetty. "Hyperornithinaemia Associated with Gyrate Atrophy of the Choroid and Retina: Two Cases from India." Annals of Clinical Biochemistry: An international journal of biochemistry and laboratory medicine 36, no. 4 (July 1, 1999): 519–22. http://dx.doi.org/10.1177/000456329903600419.

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30

Valtonen, M., K. Näntö-Salonen, S. Jääskeläinen, K. Heinänen, A. Alanen, O. J. Heinonen, N. Lundbom, M. Erkintalo, and O. Simell. "Central nervous system involvement in gyrate atrophy of the choroid and retina with hyperornithinaemia." Journal of Inherited Metabolic Disease 22, no. 8 (December 1999): 855–66. http://dx.doi.org/10.1023/a:1005602405349.

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31

Ohrt, Vagn. "GYRATE ATROPHY OF CHOROID AND RETINA AND INVERSE RETINITIS PIGMENTOSA IN THE SAME PATIENT." Acta Ophthalmologica 35, no. 1 (May 27, 2009): 26–31. http://dx.doi.org/10.1111/j.1755-3768.1957.tb05869.x.

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32

Piozzi, Elena, Salvatore Alessi, Silvia Santambrogio, Giovanni Cillino, Marco Mazza, Aissa Iggui, and Salvatore Cillino. "Carbonic Anhydrase Inhibitor with Topical NSAID Therapy to Manage Cystoid Macular Edema in a Case of Gyrate Atrophy." European Journal of Ophthalmology 27, no. 6 (August 11, 2017): e179-e183. http://dx.doi.org/10.5301/ejo.5001010.

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Purpose Gyrate atrophy of the choroid and retina (GACR) is a rare chorioretinal dystrophy characterized by a deficiency of the enzyme ornithine aminotransferase, inherited in an autosomal recessive pattern. Case Report We report a case of a 17-year-old girl with GACR, for whom the level of serum ornithine had been reduced by an arginine-restricted diet. The patient was responsive to an association of topical nonsteroidal anti-inflammatory drugs (NSAIDs) and a carbonic anhydrase inhibitor (CAI) to reduce cystoid macular edema (CME). Conclusions The efficacy of topical NSAIDs and systemic CAI association indicates that the imbalance in the distribution of retinal pigment epithelium membrane-bound carbonic anhydrase could play a major role in CME pathogenesis in GACR. To our knowledge, this is the first case of therapy with CAI treatment for GACR-related CME.

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33

Thakur, Mahak, Shahjadi Praveen, Mohd Saif, and Abdul Waris. "The Curious Case of Night Blindness: A Rare Case Report." International Journal of Current Research and Review 14, no. 06 (2022): 14–18. http://dx.doi.org/10.31782/ijcrr.2022.14903.

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Introduction: Gyrate Atrophy of the choroid and the retina is a rare autosomal recessive disorder caused by a mutation in ornithine aminotransferase. Case Report: We present an interesting case of a 55-year-old male who presented to us with complaints of night blindness, increase in number of minus glasses, senile cataract in both eyes, constriction of peripheral visual field and chorioretinal atrophic lesions in both eyes. Blood investigation revealed raised plasma ornithine levels at 690 micromole/L (normal range 30-90 micromole/L). There is progressive night blindness and visual field constriction due to progressive chorioretinal degeneration. It has now progressed to diminution of central visual acuity due to progressive macular and glaucomatous changes and cataract formation. Conclusion: There is history of blindness in two out of 6 more siblings which indicates a hereditary pattern.

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34

Douglas, E. P. "Hyperprolinaemia and gyrate atrophy of the choroid and retina in members of the same family." British Journal of Ophthalmology 69, no. 8 (August 1, 1985): 588–92. http://dx.doi.org/10.1136/bjo.69.8.588.

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35

Fleury, M., R. Barbier, F. Ziegler, M. Mohr, O. Caron, H. Dollfus, C. Tranchant, and J. M. Warter. "Myopathy with tubular aggregates and gyrate atrophy of the choroid and retina due to hyperornithinaemia." Journal of Neurology, Neurosurgery & Psychiatry 78, no. 6 (June 1, 2007): 656–57. http://dx.doi.org/10.1136/jnnp.2006.101386.

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36

Hayasaka, Seiji, Tatsuo Kodama, and Akihiro Ohira. "Retinal risks of high-dose ornithine supplements: a review." British Journal of Nutrition 106, no. 6 (July 18, 2011): 801–11. http://dx.doi.org/10.1017/s0007114511003291.

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We reviewed the literature on ornithine supplementation and related topics. Nutritionists and physicians have reported that ornithine supplementation is useful. Paediatricians and biochemists have reported that ornithine is supplemented for NH3detoxification in the hyperornithinaemia–hyperammonaemia–homocitrullinuria (HHH) syndrome. In contrast, ophthalmic researchers have reported retinotoxicity associated with high-dose ornithine.In vivoandin vitroexperiments have shown that high concentrations of ornithine or its metabolites are toxic to the retinal pigment epithelial (RPE) cells. Long-term (exceeding a few years) and high concentrations (exceeding 600 μmol/l) of ornithine in the blood induce retinal toxicity in gyrate atrophy of the choroid and retina (GA). Intermittent high levels of ornithine do not lead to retinal lesions. Constant blood ornithine levels between 250 and 600 μmol/l do not induce retinal lesions or cause a very slowly progressive retinal degeneration. Blood ornithine levels below 250 μmol/l do not produce retinal alteration. We concluded that short-term, low-dose or transient high-dose ornithine intake is safe for the retina; its nutritional usefulness and effect on NH3detoxification are supported by many researchers, but the effect may be limited; and long-term, high-dose ornithine intake may be risky for the retina. Patients with GA should avoid taking ornithine; amino acid supplementation should be administered carefully for patients with the HHH syndrome, relatives of patients with GA (heterozygotes) and subjects with RPE lesions; and blood ornithine levels and retinal conditions should be evaluated in individuals taking long-term, high-dose ornithine.

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37

Goel, Neha, Pooja Jain, Supriya Arora, and Basudeb Ghosh. "Gyrate Atrophy of the Choroid and Retina With Cystoid Macular Edema and Unilateral Optic Disc Drusen." Journal of Pediatric Ophthalmology & Strabismus 52, no. 1 (January 1, 2015): 64. http://dx.doi.org/10.3928/01913913-20141230-11.

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38

Wang, Tao, Ann H. Milam, Ann Lawler, Gary Steel, and David Valle. "PRODUCTION AND CHARACTERIZATION OF A MOUSE MODEL OF GYRATE ATROPHY OF THE CHOROID AND RETINA. • 879." Pediatric Research 39 (April 1996): 149. http://dx.doi.org/10.1203/00006450-199604001-00901.

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39

Heinänen, Näntö-Salonen, Komu, Erkintalo, Heinonen, Pulkki, Valtonen, Nikoskelainen, Alanen, and Simell. "Muscle creatine phosphate in gyrate atrophy of the choroid and retina with hyperornithinaemia-clues to pathogenesis." European Journal of Clinical Investigation 29, no. 5 (May 1999): 426–31. http://dx.doi.org/10.1046/j.1365-2362.1999.00467.x.

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40

Mitchell, G. A., L. C. Brody, J. Looney, G. Steel, M. Suchanek, C. Dowling, V. Der Kaloustian, M. Kaiser-Kupfer, and D. Valle. "An initiator codon mutation in ornithine-delta-aminotransferase causing gyrate atrophy of the choroid and retina." Journal of Clinical Investigation 81, no. 2 (February 1, 1988): 630–33. http://dx.doi.org/10.1172/jci113365.

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41

Hayasaka, S., T. Saito, H. Nakajima, O. Takahashi, K. Mizuno, and K. Tada. "Clinical trials of vitamin B6 and proline supplementation for gyrate atrophy of the choroid and retina." British Journal of Ophthalmology 69, no. 4 (April 1, 1985): 283–90. http://dx.doi.org/10.1136/bjo.69.4.283.

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42

Tanzer, F., M. Firat, M. Alagoz, and H. Erdogan. "Gyrate atrophy of the choroid and retina with hyperornithinemia, cystinuria and lysinuria responsive to vitamin B6." Case Reports 2011, mar10 1 (March 15, 2011): bcr0720103200. http://dx.doi.org/10.1136/bcr.07.2010.3200.

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43

Wang, T., A. H. Milam, G. Steel, and D. Valle. "A mouse model of gyrate atrophy of the choroid and retina. Early retinal pigment epithelium damage and progressive retinal degeneration." Journal of Clinical Investigation 97, no. 12 (June 15, 1996): 2753–62. http://dx.doi.org/10.1172/jci118730.

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44

Wang, T., G. Steel, A. H. Milam, and D. Valle. "Correction of ornithine accumulation prevents retinal degeneration in a mouse model of gyrate atrophy of the choroid and retina." Proceedings of the National Academy of Sciences 97, no. 3 (February 1, 2000): 1224–29. http://dx.doi.org/10.1073/pnas.97.3.1224.

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45

Elnahry, Ayman G., Mohamed R. Aboulfotouh, and Ghada A. Nassar. "Treatment of Intraretinal Cystic Spaces Associated With Gyrate Atrophy of the Choroid and Retina With Intravitreal Bevacizumab." Journal of Pediatric Ophthalmology & Strabismus 57, no. 6 (November 1, 2020): 400–406. http://dx.doi.org/10.3928/01913913-20200813-01.

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46

Kim, Sang Jin, Dong Hui Lim, Jae Hui Kim, and Se Woong Kang. "Gyrate Atrophy of the Choroid and Retina Diagnosed by Ornithine-δ-aminotransferase Gene Analysis: A Case Report." Korean Journal of Ophthalmology 27, no. 5 (2013): 388. http://dx.doi.org/10.3341/kjo.2013.27.5.388.

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47

Heinänen, Kaarlo, Kirsti Näntö-Salonen, Lasse Leino, Kari Pulkki, Olli Heinonen, David Valle, and Olli Simell. "Gyrate Atrophy of the Choroid and Retina: Lymphocyte Ornithine-δ-Aminotransferase Activity in Different Mutations and Carriers." Pediatric Research 44, no. 3 (September 1998): 381–85. http://dx.doi.org/10.1203/00006450-199809000-00019.

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48

Vannas-Sulonen, Kaarina, Ilkka Sipila, Antti Vannas, Juhani Rapola, and Olli Simell. "869 FIVE YEAR FOLLOW-UP OF CREATINE SUPPLEMENTATION IN GYRATE ATROPHY OF THE CHOROID AND RETINA (GA)." Pediatric Research 19, no. 4 (April 1985): 255A. http://dx.doi.org/10.1203/00006450-198504000-00899.

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49

Katagiri, Satoshi, Tamaki Gekka, Takaaki Hayashi, Hiroyuki Ida, Toya Ohashi, Yoshikatsu Eto, and Hiroshi Tsuneoka. "OAT mutations and clinical features in two Japanese brothers with gyrate atrophy of the choroid and retina." Documenta Ophthalmologica 128, no. 2 (January 16, 2014): 137–48. http://dx.doi.org/10.1007/s10633-014-9426-1.

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Peltola, Katja E., Kirsti Näntö-Salonen, Olli J. Heinonen, Satu Jääskeläinen, Kaarlo Heinänen, Olli Simell, and Eeva Nikoskelainen. "Ophthalmologic heterogeneity in subjects with gyrate atrophy of choroid and retina harboring the L402P mutation of ornithine aminotransferase." Ophthalmology 108, no. 4 (April 2001): 721–29. http://dx.doi.org/10.1016/s0161-6420(00)00587-x.

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