Results 61 to 70 of about 1,007 (198)
Case Reports in Ophthalmology, 2017 The early development of lens opacities and lens subluxation are the most common causes of vision loss in patients with anterior megalophthalmos (AM).
María Carmen Guixeres Esteve +4 more
doaj +1 more source
Human Mutation, Volume 2024, Issue 1, 2024.Retinoic acid receptor beta (RARB) is a transcriptional regulator crucial for coordinating retinoic acid‐ (RA‐) mediated morphogenic movements, cell growth, and differentiation during eye development. Loss‐ or gain‐of‐function RARB coding variants have been associated with microphthalmia, coloboma, and anterior segment defects.
Maria R. Replogle +4 more
wiley +1 more source
Megalocornea X-linked: contributo clinico.
, 1995 Megalocornea X-linked: contributo ...
L. Longanesi +3 more
core
Biometric changes in Indian pediatric cataract and postoperative refractive status
Indian Journal of Ophthalmology, 2019 Purpose: To prospectively evaluate the biometric changes in Indian pediatric cataract and postoperative refractive status. Methods: A total of 147 patients were recruited into three groups: age
Sudarshan Kumar Khokhar +3 more
doaj +1 more source
Orphanet Journal of Rare Diseases, 2012 Background Pontocerebellar hypoplasia (PCH) is a heterogeneous group of diseases characterized by lack of development and/or early neurodegeneration of cerebellum and brainstem.
Burglen Lydie +20 more
doaj +1 more source
Bilateral ectropion in a 3 months old baby with lamellar ichthyosis: a rare case report [PDF]
, 2017 Ichthyosiform dermatoses are a group of hereditary disorders characterized by dryness and roughness of the skin with excessive accumulation of epidermal scales.
Kumar, Sweta S. +3 more
core +1 more source
In vivo confocal microscopy in primary congenital glaucoma with megalocornea.
, 2002 To report the microscopic findings of congenital glaucoma-related megalocornea using in vivo confocal microscopy. PATIENTS AND METHODS: Two consecutive adult patients presenting the typical features of glaucomatous megalocornea underwent a complete ...
Doronzo E. +4 more
core
Frank-ter Haar syndrome-additional findings?
, 2016 Frank-ter Haar syndrome is a genetic disease that is transmitted by autosomal recessive pattern with characteristic features such as megalocornea or glaucoma, a prominent coccyx, heart defects, developmental delays, brachycephaly, a wide anterior ...
Kose, Taha Emre +5 more
core +1 more source
Primary hypothyroidism and osteopenia associated with Neuhauser syndrome.
, 2002 We report on a patient affected by Neuhauser megalocornea-mental retardation (MMR) syndrome, presenting with most of the major manifestations of this disorder, in association with primary hypothyroidism and osteopenia. These symptoms, previously reported
MINGARELLI R +3 more
core +1 more source