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Literature DB >> 646986

Familial bilateral macular colobomata.

Abstract

A mother and daugher had a life-long history of poor vision and photophobia, bilateral macular colobomata, and retinal pigment epithelial abnormalities; psychoelectrophysiological testing indicated extensive loss of cone or cone-rod function. These cases suggest this is a genetically determined condition unrelated to infection.

Entities: Disease

Mesh：

Year: 1978 PMID： 646986 PMCID： PMC1043199 DOI： 10.1136/bjo.62.4.261

Source DB: PubMed Journal: Br J Ophthalmol ISSN： 0007-1161 Impact factor: 4.638

10 in total

1. CONE DYSFUNCTION SYNDROMES.

Authors: G GOODMAN; H RIPPS; I M SIEGEL
Journal: Arch Ophthalmol Date: 1963-08

2. FAMILIAL MACULAR COLOBOMATA.

Authors: P J Evans
Journal: Br J Ophthalmol Date: 1937-09 Impact factor: 4.638

3. CONGENITAL COLOBOMA OF THE MACULA: TOGETHER WITH AN ACCOUNT OF THE FAMILIAL OCCURRENCE OF BILATERAL MACULAR COLOBOMA IN ASSOCIATION WITH APICAL DYSTROPHY OF HANDS AND FEET.

Authors: A Sorsby
Journal: Br J Ophthalmol Date: 1935-02 Impact factor: 4.638

4. COLOBOMA AT THE MACULA (BOTH EYES).

Authors: E Clarke
Journal: Br J Ophthalmol Date: 1927-03 Impact factor: 4.638

5. A new dominant progressive foveal dystrophy.

Authors: H R Frank; M B Landers; R J Williams; J B Sidbury
Journal: Am J Ophthalmol Date: 1974-12 Impact factor: 5.258

6. Retinal aplasia in association with macular coloboma, keratoconus and cataract.

Authors: D A Leighton; R Harris
Journal: Clin Genet Date: 1973 Impact factor: 4.438

7. Macular coloboma and skeletal abnormality.

Authors: C I Phillips; D L Griffiths
Journal: Br J Ophthalmol Date: 1969-05 Impact factor: 4.638

8. Bilateral macular coloboma, keratoconus, and retinitis pigmentosa.

Authors: J Freedman; G M Gombos
Journal: Ann Ophthalmol Date: 1971-06

9. Classification of the choroidal atrophies.

Authors: A E Krill; D Archer
Journal: Am J Ophthalmol Date: 1971-09 Impact factor: 5.258

10. Macular colobomas in Leber's congenital amaurosis.

Authors: S Margolis; B M Scher; R E Carr
Journal: Am J Ophthalmol Date: 1977-01 Impact factor: 5.258

10 in total

6 in total

Familial bilateral macular colobomata.

1. CONE DYSFUNCTION SYNDROMES.

2. FAMILIAL MACULAR COLOBOMATA.

3. CONGENITAL COLOBOMA OF THE MACULA: TOGETHER WITH AN ACCOUNT OF THE FAMILIAL OCCURRENCE OF BILATERAL MACULAR COLOBOMA IN ASSOCIATION WITH APICAL DYSTROPHY OF HANDS AND FEET.

4. COLOBOMA AT THE MACULA (BOTH EYES).

5. A new dominant progressive foveal dystrophy.

6. Retinal aplasia in association with macular coloboma, keratoconus and cataract.

7. Macular coloboma and skeletal abnormality.

8. Bilateral macular coloboma, keratoconus, and retinitis pigmentosa.

9. Classification of the choroidal atrophies.

10. Macular colobomas in Leber's congenital amaurosis.

1. Bilateral macular staphylomas in a patient with cone dystrophy.

2. Juvenile atrophy of pigment epithelium and choriocapillaris.

Review 3. Retinal dystrophy and macular coloboma.

4. Bilateral macular dysplasia ('colobomata') and congenital retinal dystrophy.

5. Bilateral macular coloboma and pigmented paravenous retinochoroidal atrophy.

6. North Carolina's dominant progressive foveal dystrophy: how progressive is it?