Results 51 to 60 of about 3,887 (162)
Microphthalmia with pseudogliomatosis proliferation in the retina and orbital cyst
TNOA Journal of Ophthalmic Science and Research, 2020 A 28-year-old systemically healthy male presented with a history of decreased vision in the right eye and a blind, undersized left eye since birth. On evaluation, the patient had typical inferonasal iris coloboma and retinochoroidal coloboma in the right
Bipasha Mukherjee +3 more
doaj +1 more source
Epidermal Nevi and Epidermal Naevus Syndromes
JEADV Clinical Practice, Volume 4, Issue 3, Page 669-680, August 2025.ABSTRACT Epidermal nevi (EN) arise from postzygotic variants in ectoderm‐derived cell lines, such as keratinocytes and cells forming adnexa. EN may be present alone without any associated abnormality or be part of a syndrome. In this review, we will discuss about the clinical and genetics of the main types of EN and related syndromes.
Gianluca Tadini +2 more
wiley +1 more source
Mutation of IPO13 causes recessive ocular coloboma, microphthalmia, and cataract
Experimental and Molecular Medicine, 2018 Hereditary eye disease: Looking for blindness in the family tree In-depth genomic analysis of the family of a young man with severe visual impairment reveals a new gene involved in eye development. Ocular coloboma encompasses various hereditary disorders
Xiu-Feng Huang +13 more
doaj +1 more source
A large novel deletion downstream of PAX6 gene in a Chinese family with ocular coloboma.
PLoS ONE, 2013 PurposeThe paired box gene 6 (PAX6) is an essential transcription factor for eye formation. Genetic alterations in PAX6 can lead to various ocular malformations including aniridia.
Hong Guo +4 more
doaj +1 more source
The Natural Course of Bosch‐Boonstra‐Schaaf Optic Atrophy Syndrome
Clinical Genetics, Volume 108, Issue 2, Page 168-178, August 2025.Here, we present data on genetic variants and phenotype development of 47 individuals with Bosch‐Boonstra‐Schaaf optic atrophy syndrome, a rare neurodevelopmental disorder, highlighting the fact that the disease does not appear to be fundamentally progressive.
Ilia Valentin +4 more
wiley +1 more source
Journal of Clinical Ophthalmology and ResearchOcular coloboma can involve various structures, e.g., iris, lens, eyelid, zonules, retina-choroid, and optic disc. Here, we have discussed a rare co-occurrence of macular coloboma and optic disc coloboma (ODC) in the same patient.
Avik Dey Sarkar +3 more
doaj +1 more source
Expanding the Interface: Overlooked Dermatologic Disorders With Ocular Involvement
JEADV Clinical Practice, Volume 4, Issue 5, Page 1239-1243, December 2025.
A George
wiley +1 more source
Bilateral Congenital Persistent Pupillary Membranes: A Case Report
Clinical Case Reports, Volume 13, Issue 7, July 2025.ABSTRACT As a remnant of the fetal tunica vasculosa lentis, persistent pupillary membranes are often an incidental finding during eye examinations. Management is conservative when asymptomatic, with intervention considered only if visual development is compromised.
Yan Jing, Bin Yuan, Nianting Tong
wiley +1 more source
Journal of Clinical Ophthalmology and Research, 2020 Aim: To present a rare clinico-pathological case of persistent fetal vasculature with colobomatous cystic optic disc in a micro-ophthalmic eye. Method: A case report. Results: An 8 year boy presented to the tertiary eye care center was diagnosed as micro-
Palak Chirania +6 more
doaj +1 more source
Syndrome of the Month: Bosma Arhinia Microphthalmia Syndrome
American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
Katherine J. K. Patterson +2 more
wiley +1 more source