scholarly journals Foveal hypoplasia-presenile cataract syndrome

2020 ◽  
Author(s):  
Keyword(s):  
Foveal Hypoplasia ◽  
Presenile Cataract

scholarly journals Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation

2013 ◽  
Vol 22 (3) ◽  
pp. 344-349 ◽  
Author(s):  
Shery Thomas ◽  
Mervyn G Thomas ◽  
Caroline Andrews ◽  
Wai-Man Chan ◽  
Frank A Proudlock ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Foveal Hypoplasia ◽  
Pax6 Mutation ◽  
Presenile Cataract

An Unusual Phenotype in Dutch Patients With Oculocutaneous Albinism Type 4: Evident Hypopigmentation Without Other Ocular Deficits.

2021 ◽  
Author(s):  
Charlotte C Kruijt ◽  
Nicoline E Schalij-Delfos ◽  
Gerard C de Wit ◽  
Ralph F Florijn ◽  
Maria M van Genderen
Keyword(s):  
Visual Acuity ◽  
Visual Pathways ◽  
Oculocutaneous Albinism ◽  
Novel Mutations ◽  
Normal Visual Acuity ◽  
Diagnostic Center ◽  
Foveal Hypoplasia ◽  
Unusual Phenotype ◽  
First Time ◽  
Dutch Cohort

Abstract Purpose: To describe the phenotype of Dutch patients with oculocutaneous albinism type 4 (OCA4).Patients and Methods: We collected data on pigmentation (skin, hair, and eyes), visual acuity (VA), nystagmus, foveal hypoplasia, chiasmal misrouting, and molecular analyses of nine Dutch OCA4 patients from the Bartiméus Diagnostic Center for complex visual disorders.Results: All patients had severely reduced pigmentation of skin, hair, and eyes with iris transillumination over 360 degrees. Three unrelated OCA4 patients had normal VA, no nystagmus, no foveal hypoplasia, and no misrouting of the visual pathways. Six patients had poor visual acuity (0.6 to 1.0 logMAR), nystagmus, severe foveal hypoplasia and misrouting. We found two novel mutations in the SLC45A2 gene, c.310C>T; p.(Pro104Ser), and c.1368+3_1368+9del p.(?).Discussion: OCA4 patients of this Dutch cohort all had hypopigmentation of skin, hair, and iris translucency. However, patients were either severely affected with regard to visual acuity, foveal hypoplasia, and misrouting, or visually not affected at all. We describe for the first time OCA4 patients with an evident lack of pigmentation, but normal visual acuity, normal foveal development and absence of misrouting. This implies that absence of melanin does not invariably lead to foveal hypoplasia and abnormal routing of the visual pathways.

Foveal avascular zone in oculocutaneous albinism

2021 ◽  
Vol 14 (5) ◽  
pp. e240208
Author(s):  
Hana A Mansour ◽  
Sami Uwaydat ◽  
Muhamad H Yunis ◽  
Ahmad M Mansour
Keyword(s):  
Optical Coherence Tomography ◽  
Optical Coherence Tomography Angiography ◽  
Oculocutaneous Albinism ◽  
Foveal Avascular Zone ◽  
Optical Coherence ◽  
Retinal Capillary ◽  
Avascular Zone ◽  
Capillary Plexus ◽  
Foveal Hypoplasia

Optical coherence tomography angiography imaging in two patients with oculocutaneous albinism, one with severe nystagmus, showed persistence of both the superficial and the deep retinal capillary plexus adding another vascular feature to the foveal hypoplasia.

scholarly journals Choroidal neovascularization in an eye with foveal hypoplasia associated with albinism

2019 ◽  
Vol 67 (7) ◽  
pp. 1165
Author(s):  
Vishal Raval ◽  
Avadhesh Oli ◽  
Srinivas Rao ◽  
Taraprasad Das
Keyword(s):  
Choroidal Neovascularization ◽  
Foveal Hypoplasia

Variable phenotype related to a novel PAX 6 mutation (IVS4+5G>C) in a family presenting congenital nystagmus and foveal hypoplasia

2004 ◽  
Vol 138 (6) ◽  
pp. 1016-1021 ◽  
Author(s):  
Marie-Claire Vincent ◽  
Raffaella Gallai ◽  
David Olivier ◽  
Claude Speeg-Schatz ◽  
Jacques Flament ◽  
...  
Keyword(s):  
Congenital Nystagmus ◽  
Foveal Hypoplasia ◽  
Variable Phenotype

A Rare Case of Foveal Hypoplasia With Dyschromatosis Universalis

2019 ◽  
Vol 50 (3) ◽  
pp. 192-195
Author(s):  
Brijesh Takkar ◽  
Priyanka ◽  
Dinesh P. Asati ◽  
Richa Rupla ◽  
Varsha Shrivastava
Keyword(s):  
Rare Case ◽  
Foveal Hypoplasia

Optical Coherence Tomography Angiography in Foveal Hypoplasia

2016 ◽  
Vol 47 (12) ◽  
pp. 1127-1131 ◽  
Author(s):  
Fatemeh Bazvand ◽  
Reza Karkhaneh ◽  
Ramak Roohipoor ◽  
Mohammad-Bagher Rajabi ◽  
Nazanin Ebrahimiadib ◽  
...  
Keyword(s):  
Optical Coherence Tomography ◽  
Optical Coherence Tomography Angiography ◽  
Optical Coherence ◽  
Foveal Hypoplasia

Ocular Albinism

2021 ◽  
pp. 236-242
Keyword(s):  
Gene Therapy ◽  
Differential Diagnosis ◽  
Optic Nerve ◽  
Effective Treatment ◽  
Early Treatment ◽  
Loss Of Function ◽  
Poor Vision ◽  
Ocular Albinism ◽  
Infantile Nystagmus ◽  
Foveal Hypoplasia

Ocular albinism is an X-linked melanosome biogenesis disorder, leading to mild cutaneous symptoms and persistent visual impairment in affected males. As a result of mutations in the GPR143 gene, a defect occurs in the transformation of melanosomes into macromelanosomes with loss of function at the GPBR143 receptor. Clinically, manifests with nystagmus, which typically occurs in infants until the sixth month from birth. Optic nerve misdirection which can be detected by VEP is important in the differential diagnosis of another infantile nystagmus. Foveal hypoplasia is the most responsible finding for poor vision. Today, functional losses are tried to be minimized by differential diagnosis and early treatment. It is predicted that more effective treatment can be provided with gene therapy in the future.

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