The hereditary macular dystrophies are progressive degenerations of the central retina and contribute significantly to irreversible visual loss in developed countries. Among these disorders, Sorsby's fundus dystrophy (SFD), an autosomal dominant condition, provides an excellent mendelian model for the study of the genetically complex age-related macular degeneration (AMD), the most common maculopathy in the elderly. Recently, we mapped the SFD locus to 22q13-qter. This same region contains the gene for tissue inhibitor of metalloproteinases-3 (TIMP3), which is known to play a pivotal role in extracellular matrix remodeling. We have now identified point mutations in the TIMP3 gene in affected members of two SFD pedigrees. These mutations are predicted to disrupt the tertiary structure and thus the functional properties of the mature protein.

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Erosion and intrusion of scleral buckle are rare complications of scleral buckling procedures. The intruding buckle may be left intact unless there is significant threat to the integrity of ocular structures, recurrent detachment, or hemorrhage. Manipulation of the encircling band or buckle does not necessarily alter the visual acuity or the status of the retina.

SUMMARY The association of vitiligo with inflammation of the uveal tract is well established. The relationship between vitiligo and hypopigmentation and/or degeneration of the retinal pigment epithelium (RPE) not secondary to ocular inflammation has not been adequately investigated. Sixty (27%) of 223 consecutive patients with vitiligo were found to have some evidence of RPE hypopigmentation ranging from mild, focal areas of involvement in most cases to extensive RPE degeneration with a retinitis pigmentosa-like syndrome in one patient. Fifteen (25%) patients complained of night blindness. Only 6 (4%) of 148 patients in a control group had similar funduscopic findings (p<0-001). None of these patients were symptomatic. There have been isolated reports of vitiligo occurring with tapetoretinal degeneration. We report 2 patients with both vitiligo and retinitis pigmentosa.Vitiligo is defined as an 'idiopathic, probably autoimmune condition characterized by destruction of the melanocytes in small or large circumscribed areas of the skin, resulting in patches of depigmentation, often having a hyperpigmented border or often enlarging slowly'.' It affects approximately 0-38% to 1 0% of the population.23Depigmentation of the lids and poliosis of the brows and eyelashes are commonly seen in vitiligo. The association of vitiligo with inflammation of the uveal tract has long been recognised47 and is at present the subject of renewed interest.'-" There have also been isolated reports ofvitiligo occurring with tapetoretinal degenerations. [12][13][14][15][16][17] In the present report we consider the possible relationship between vitiligo and disorders of the retinal pigment epithelium (RPE). Materials and methodsThe common finding ofvitiligo and hypopigmentation and/or degeneration of the RPE was observed in patients drawn from 2 sources.Two hundred and twenty-three patients with previously documented cutaneous vitiligo were examined for ocular abnormalities. These The age range of the vitiligo patients was 2-82 years, with an average age of 43 years; 143 were female; 83 were male; there were 202 Caucasians and 21 blacks. The duration of the vitiligo ranged from 5 months to 66 years, with an average of 13 years. Most of the patients were on psoralen therapy for their disease.One hundred and forty-eight patients with psoriasis undergoing psoralen and ultraviolet light (PUVA) therapy were examined in an identical manner. This was an ideal control population because of a similar age range (5-77 years), average age (47 years), racial distribution (140 Caucasian, 6 black), and medication regimen (psoralen therapy) as a study group. Because of the nature of the skin changes in the vitiligo patients it was not possible to carry out a double-masked study.We examined 2 patients in whom both vitiligo and retinitis pigmentosa (RP) were present. 153 on 11 April 2019 by guest. Protected by copyright.

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