Phenotypic differences between familial versus non-familial Juvenile onset open angle glaucoma patients. (2nd January 2018)

• Record Type: Journal Article
• Authors: Gupta, Viney; Markan, Ashish; Somarajan, Bindu I.; Sihota, Ramanjit; Gupta, Amisha; Gupta, Shikha; Sharma, Arundhati
• Is Part Of: Ophthalmic genetics. Volume 39:Number 1(2018)
• Page Start: 63
• Page End: 67
• Publication Date: 2018-01-02
• Subjects: Early onset glaucoma -- JOAG -- Juvenile glaucoma; Eye -- Diseases -- Genetic aspects -- Periodicals; Eye Diseases -- genetics -- Periodicals; Eye Diseases -- in infancy & childhood -- Periodicals; 617.7
• DOI: 10.1080/13816810.2017.1368088
• Languages: English
• ISSNs: 1381-6810

Abstract

ABSTRACT: Aim: To evaluate phenotypic differences among familial and non-familial JOAG patients. Methods: First degree relatives of unrelated JOAG patients were screened for glaucoma and ocular hypertension. JOAG probands were grouped as familial or non-familial and phenotypic differences in terms of age of onset, gender, baseline untreated IOP, presence angle dysgenesis, and refractive error was compared between the two groups. Results: Out of 368 unrelated JOAG patients, 134 in whom all first degree relatives had been examined were included in the study. The non-familial JOAG ( n = 96) had similar age of onset as familial JOAG ( n = 38); ( p = 0.076) but had greater male preponderance ( p = 0.046), and had the higher baseline IOP ( p = 0.044) compared to familial JOAG. However, on adjustment using the Bonferroni correction, the observed differences were not found to be significant. Both groups had similar proportion of patients with angle dysgenesis ( p = 0.46) and high myopia ( p = 0.72). Conclusions: Non-familial JOAG were not found to be phenotypically different from the familial JOAG patients in this cohort.