Results 51 to 60 of about 2,635 (188)

Rare association of familial aniridia, microcornea with myopia and aphakia

Middle East African Journal of Ophthalmology, 2014
Aniridia is a rare congenital malformation that may be associated with various ocular and systemic manifestations. We describe two cases of familial total aniridia associated with microcornea, high myopia and dislocated lens. No systemic abnormality was noted in any of the cases.
Biswas, Jaya, Chakrabarti, Asim, Das, Debabrata   +2 more
openaire   +3 more sources

A case of charge association with microcornea

, 2003
A 2-year-old Japanese girl presented with esotropia, microcornea and choroidal coloboma in both eyes. There were other abnormalities such as congenital heart disease, retarded growth, and hearing impairment. According to these findings, she was diagnosed
Shibuya, Yuzo, Kono, Tatsuro, Kodama, Tatsuo, Masuda, Hisashi, Ohira, Akihiro, Imamachi, Katsue   +5 more
core   +1 more source

CRYBB1 mutation associated with congenital cataract and microcornea

Purpose: The molecular characterization of a UK family with an autosomal dominant congenital cataract associated with microcornea is reported. Methods: Family history and clinical data were recorded.
Billingsley G, Chan LLY, Heon E, Willoughby CE, Ferrini W, Shafiq A, Mok C, Priston M, Chandna A, Kaye S   +9 more
core   +5 more sources

Oculodentodigital Dysplasia: A Case Report and Major Review of the Eye and Ocular Adnexa Features of 295 Reported Cases

Case Reports in Ophthalmological Medicine, 2020
Oculodentodigital dysplasia (ODDD) is a rare genetic disorder associated with a characteristic craniofacial profile with variable dental, limb, eye, and ocular adnexa abnormalities.
Virang Kumar, Natario L. Couser, Arti Pandya   +2 more
doaj   +1 more source

Ophthalmic Manifestations in A Patient With Kabuki Syndrome: A Case Report With a KDM6A Gene Variant

Case Reports in Ophthalmological Medicine, Volume 2026, Issue 1, 2026.
Kabuki syndrome (KS) is a rare genetic disorder with a wide phenotypic spectrum and several genotypic variants. KS can result from mutations on Chromosome 12 (KMT2D gene) and Chromosome X (KDM6A gene). The KDM6A gene mutation is seen in approximately 2%–6% of Kabuki syndrome cases.
Tülin Öğreden, Gülçiçek Cayhan, Semonti Nandi   +2 more
wiley   +1 more source

Evidence of genetic heterogeneity in MRCS (microcornea, rod-cone dystrophy, cataract, and posterior staphyloma) syndrome

, 2006
PURPOSE: To present the detailed phenotype of a subject with MRCS (microcornea, retinal dystrophy, cataract, and posterior staphyloma) syndrome and to investigate the underlying molecular genetic basis. DESIGN: Interventional case report.
Black, Graeme C M, Holder, Graham E., Urquhart, Jill, Restori, Marie, Kayali, Nuha, Manson, Forbes D C; id_orcid, Michaelides, Michel   +6 more
core   +1 more source

Inherited partial aniridia, microcornea with high myopia and Bergmeister′s papilla: A new phenotypic expression

Indian Journal of Ophthalmology, 2008
We describe a rare case of familial partial aniridia with high myopia and Bergmeister papilla in five members of a family. Cataract surgery was performed on the proband wherein a brown black spherophakic lens was extracted.
Naithani Prashant, Sinha Ankur, Gupta Viney   +2 more
doaj  

Two familial cases of anterior lentiplane in cataract-microcornea syndrome: a case series and literature review

JFO Open Ophthalmology
Purpose: To report a familial case series of anterior lentiplane with congenital cataract-microcornea syndrome (CCMC) and describe the imaging characteristics of anterior lentiplane using anterior segment optical coherence tomography (AS-OCT).
Apichat Aeampuck, Phattrawan Pisuchpen, Sunee Chansangpetch   +2 more
doaj   +1 more source

Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis

Orphanet Journal of Rare Diseases, 2020
Background Mutations in CRYAA, which encodes the α-crystallin protein, are associated with a spectrum of congenital cataract–microcornea syndromes. Results In this study, we performed clinical examination and subsequent genetic analysis in two unrelated ...
Andrey V. Marakhonov, Anna A. Voskresenskaya, Maria Jose Ballesta, Fedor A. Konovalov, Tatyana A. Vasilyeva, Fiona Blanco-Kelly, Nadezhda A. Pozdeyeva, Vitaly V. Kadyshev, Vanesa López-González, Encarna Guillen, Carmen Ayuso, Rena A. Zinchenko, Marta Corton   +12 more
doaj   +1 more source

Distinct Pathogenic Mechanisms of Two Novel NHS Mutations Identified in Chinese Han Families With Nance–Horan Syndrome

Human Mutation, Volume 2026, Issue 1, 2026.
Nance–Horan syndrome (NHS) is a rare X‐linked genetic disorder characterized by congenital cataracts, dental anomalies, and neurodevelopmental impairments, caused by mutations in the NHS gene. In this study, two novel NHS mutations, c.3847C>T and c.2519_2520del, were identified in two unrelated Chinese Han families, and their pathogenic molecular ...
Li Li, Jiaxi Song, Meiling Qin, Shuyu Zhou, Jingfan Liu, Guangying Zheng, Harleen Khatra   +6 more
wiley   +1 more source