Retinal Detachment
Description
Primary or spontaneous detachment of the retina occurs due to underlying ocular disease and often involves the vitreous as well as the retina. The precipitating event is formation of a retinal tear or hole, which permits fluid to accumulate under the sensory layers of the retina and creates an intraretinal cleavage that destroys the neurosensory process of visual reception. Vitreoretinal degeneration and tear formation are painless phenomena, and in most cases, significant vitreoretinal pathology is found only after detachment of the retina starts to cause loss of vision or visual field. Without surgical intervention, retinal detachment will almost inevitably lead to total blindness (summary by McNiel and McPherson, 1971).
Clinical FeaturesMcNiel and McPherson (1971) studied an extensive Texas kindred in which 31 of 181 members over 5 generations had primary retinal detachment, independent of myopia. Onset of disease occurred over a wide age range, with the youngest reported patient presenting at age 7 years. The authors noted that penetrance increased with age, and they suggested that individuals heterozygous for the presumed mutation were likely to become affected if they lived long enough. No features indicative of arthroophthalmopathy (108300) or other dominant syndromes with retinal detachment were reported.
InheritanceThe transmission pattern of retinal detachment in the family reported by McNiel and McPherson (1971) was consistent with autosomal dominant inheritance.
Vogt (1940) found 19 families with retinal detachment in at least 2 generations. Some showed involvement in 3 generations and one in 4 generations.