Abstract | BACKGROUND:
Autosomal dominant vitreoretinochoroidopathy recently has been described as a condition characterized by peripheral chorioretinal atrophy and areas of hypopigmentation and hyperpigmentation between the equator and the ora serrata circumferentially in the ocular fundus. We describe the clinical features of a family, some members of which have this disorder. This is the first such report of a family outside the United States. METHODS: We examined a family of 15 individuals, seven of whom were affected. RESULTS: The main clinical findings were peripheral pigmentary changes for 360 degrees, with a discrete boundary near the equator. In one patient, a partial vitreous detachment was found that was creating increasing traction to the macula and to the peripheral retina. Vitreous surgery successfully relieved the traction, and vision recovered from 20/100 to 20/25. One patient lost visual acuity at the age of 10 years when complete rhegmatogenous detachment occurred. In two women, a horizontal nystagmus was present showing typical signs of a congenital nystagmus. Results of electrooculography demonstrated a marked reduction of light rise and a clear reduced Arden ratio in one patient. CONCLUSIONS:
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Authors | J Roider, E Fritsch, H Hoerauf, W Heide, H Laqua |
Journal | Retina (Philadelphia, Pa.)
(Retina)
Vol. 17
Issue 4
Pg. 294-9
( 1997)
ISSN: 0275-004X [Print] United States |
PMID | 9279944
(Publication Type: Case Reports, Journal Article)
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Topics |
- Adult
- Aged
- Child, Preschool
- Choroid Diseases
(genetics, pathology)
- Electrooculography
- Eye Diseases
(genetics, pathology)
- Female
- Fluorescein Angiography
- Fundus Oculi
- Humans
- Male
- Nystagmus, Pathologic
(congenital)
- Pedigree
- Retinal Diseases
(genetics, pathology)
- Visual Acuity
- Vitreous Body
(pathology)
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