Results 171 to 180 of about 27,235 (216)

Macular cysts in retinal dystrophy

Current Opinion in Ophthalmology, 2011
To describe the entity of macular cysts in retinal dystrophy, differentiate it from cystoid macular edema (CME), and review the role of carbonic anhydrase inhibitors in management.Macular cysts in retinal dystrophy are seen in retinopathies caused by mutations in the NR2E3 gene, juvenile X-linked retinoschisis (XLRS), and some other retinal dystrophies.
Anuradha, Ganesh, Eliza, Stroh, George J, Manayath, Sana, Al-Zuhaibi, Alex V, Levin   +4 more
openaire   +2 more sources

Retinal dystrophies and genetic counselling

Acta Ophthalmologica Scandinavica, 1996
ABSTRACT Increased patient demand is leading to a corresponding increase in the need for informed genetic counselling in ophthalmic practice which requires refined diagnosis, and a detailed knowledge of molecular genetics. Accurate assessment of risk and visual potential in prospective children is becoming available for a range of retinal dystrophies ...
M, Jay, K, Evans
openaire   +2 more sources

Retinal dystrophy and macular coloboma

Documenta Ophthalmologica, 1988
Seven cases of retinal dystrophy associated with bilateral macular colobomata are presented. Two separate entities were found. The first is a congenital onset pigmentary retinopathy similar in electrophysiologic findings and symptoms to typical Leber's congenital amaurosis; the second appears to be a form of pregressive cone-rod dystrophy with ...
J R, Heckenlively, S G, Foxman, E S, Parelhoff   +2 more
openaire   +2 more sources

A Practical Approach to Retinal Dystrophies

2018
Genomic approaches to developing new diagnostic and therapeutic strategies in retinal dystrophies are among the most advanced applications of genetics (Tsang SH, Gouras P (1996) Molecular physiology and pathology of the retina. In: Duane TD, Tasman W, Jaeger AE (eds) Duane's clinical opthalmology. Lippincott-Raven, Philadelphia).
Irena, Tsui, Brian J, Song, Chyuan-Sheng, Lin, Stephen H, Tsang   +3 more
openaire   +2 more sources

Retinal capillaritis in a CRB1-associated retinal dystrophy

Ophthalmic Genetics, 2017
To report a case of CRB1-associated retinal dystrophy characterized by vitritis, retinal capillaritis, and cystoid macular edema (CME).A case report.An 8-year-old boy was diagnosed with intermediate uveitis and treated with corticosteroids. He was subsequently diagnosed with retinal dystrophy and found to have two CRB1 mutations.Retinal capillaritis ...
Murro, Vittoria, Mucciolo, Dario Pasquale, Sodi, Andrea, Vannozzi, Lorenzo, De Libero, Cinzia, Simonini, Gabriele, Rizzo, Stanislao   +6 more
openaire   +3 more sources

Hereditary retinal dystrophies and choroidal neovascularization

Graefe's Archive for Clinical and Experimental Ophthalmology, 2000
Choroidal neovascularization infrequently occurs in patients affected by hereditary retinal dystrophies.We studied eight patients suffering from different hereditary retinal dystrophies (Best's disease, reticular dystrophy, butterfly-shaped dystrophy, gyrate atrophy, and retinitis pigmentosa) who developed choroidal neovascularization.
F. Marano, A. F. Deutman, AVITABILE, Teresio, A. L. AendeKerK   +3 more
openaire   +4 more sources

Familial Renal-Retinal Dystrophy

Archives of Pediatrics & Adolescent Medicine, 1973
Two sisters have a rare genetic disorder characterized by impaired vision and progressive renal failure. The eye lesion affects the retina. The kidney component both clinically and histologically closely resembles nephronophthisis-medullary cystic disease. Examples of other families with this entity have been found in the literature.
openaire   +2 more sources

A Practical Approach to Retinal Dystrophies

Genomic approaches to developing new diagnostic and therapeutic strategies in retinal dystrophies are among the most advanced applications of genetics (Tsang and Gouras 1996). The notion that "nothing can be done" for patients with retinal dystrophies is no longer true.
Ahmet, Hondur, Irena, Tsui, Brian J, Song, Chyuan-Sheng, Lin, Stephen, Tsang, Tarun, Sharma, Vlad, Diaconita   +6 more
openaire   +2 more sources

Retinal vasoproliferative tumors in pediatric retinal dystrophies

Journal of American Association for Pediatric Ophthalmology and Strabismus
This case series documents retinal vasoproliferative tumors (RVPTs) in 3 unrelated girls (14, 14, and 13 years of age) with different genetically confirmed autosomal recessive retinal dystrophies (related to CEP290, ABCA4, and MYO7A). The CEP290-related and ABCA4-related cases were both unilateral right eye lesions (inferotemporal unifocal and temporal
Arif O, Khan, Aniruddha, Agarwal
openaire   +2 more sources

Inherited Retinal Dystrophies

2019
Evaluation begins with a careful history of systemic and visual symptoms. Important parts of the history include age of onset, laterality, nyctalopia (night blindness), hemeralopia (day blindness), and visual distortion. A family history is critical and can help narrow the differential diagnosis and later guide genetic testing.
Gregory Stein, Tarun Sharma, Thiago Cabral, Stephen Tsang, Wendy Chung   +4 more
openaire   +1 more source