BACKGROUND We have been observing that a significant proportion of our patients, especially females, have certain pigmentary demarcation lines (PDL) over the face. However, systematic studies of the subject are lacking. AIMS We categorized the different clinical patterns of facial PDLs in the Indian subpopulation and assessed their prevalence in this study. METHODS About 4000 consecutive pa...

OBJECTIVE To report visual acuity outcomes of nonsurgical management of macular hemorrhage secondary to retinal artery macroaneurysms. METHODS Forty-one patients at multiple centers with macular hemorrhage secondary to retinal artery macroaneurysms managed with observation alone were reviewed. Time to clearance of macular hemorrhage, visual acuity at final follow-up, and presence or absence o...

PURPOSE To describe a case of a child with a known history of pigmentary mosaicism suggestive of Hypomelanosis of Ito presenting with unilateral leukocoria, who was ultimately diagnosed with retinoblastoma. METHODS A report of a 16-month-old girl with pigmentary mosaicism and unilateral retinoblastoma. RESULTS A previously healthy 16-month-old girl with a diagnosis of a mosaic hypopigmentat...

Mutations in fibrillin-1 (FBN1) cause a wide spectrum of disorders, including Marfan syndrome, which have in common defects in fibrillin-1 microfibrils. Ectopia lentis and myopia are frequently observed ocular manifestations of Marfan syndrome. Glaucoma is also associated with Marfan syndrome, though the form of glaucoma has not been well-characterized. In this report, ocular examination of a p...

Background: Waardenburg syndrome is a rare autosomally-inherited developmental disorder characterized by sensorineural deafness in association with pigmentary anomalies comprising various ocular features including dystopia canthorum, iris heterochromia, eyebrow flare, and fundus alterations. It is a congenital non-progressive genetic disorder that has been found to result in hearing loss, reduc...

Waardenburg syndrome (WS) is a clinically and genetically heterogeneous disease accounting for >2% of the congenitally deaf population. It is characterized by deafness in association with pigmentary anomalies and various defects of neural crest-derived tissues. At least four types are recognized (WS1, WS2, WS3 and WS4) on the basis of clinical and genetic criteria. Two previously described fami...

Molecular defects occurring in the endothelin receptor type-B (EDNRB) gene are known to be associated with pigmentary anomalies and intestinal aganglionosis in humans, rodents and horses. We carried out a cytogenetic investigation in 2 ewes heterozygous for the deletion of the EDNRB gene and in 2 more females as control. The RBA-banding showed that all 4 ewes were karyologically normal. EDNRB g...

Phylloid hypomelanosis is a distinct type of pigmentary mosaicism characterized by congenital hypochromic macules resembling a floral ornament with various elements such as round or oval patches, asymmetrical macules similar to begonia leaves, or oblong lesions. It has been found to be predominantly associated with abnormalities in chromosome 13 and sometimes as-sociated with different extracut...

Purpose To accelerate the development of new therapies, an inherited retinal degeneration model in a nonhuman primate would be useful to confirm the efficacy in preclinical studies. In this study, we describe the discovery of retinitis pigmentosa in a cynomolgus monkey (Macaca fascicularis) pedigree. Methods First, screening with fundus photography was performed on 1443 monkeys at the Tsukuba...

OBJECTIVE To describe the phenotype of the Bardet-Biedl syndrome in patients with mutations in the BBS4 gene. METHODS We examined 3 pairs of siblings with Bardet-Biedl syndrome in whom 3 different mutations in the BBS4 gene were detected, 2 of which were homozygous for the mutation. RESULTS All patients had an increased body mass index. The obesity varied between families from moderate to s...