Refractive profile in oculocutaneous albinism and its correlation with final visual outcome

Yahalom, Claudia; Tzur, Veronica; Blumenfeld, Anat; Greifner, Gabriel; Eli, Dalia; Rosenmann, Ada; Glanzer, Sherry; Anteby, Irene

doi:10.1136/bjophthalmol-2011-300072

Cited by 47 publications

(37 citation statements)

References 13 publications

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“…Some studies report hypermetropia as the most common refractive error,2,7,14 while others report myopia 6,15. In a recent study of the refractive profiles of patients with oculocutaneous albinism, Yahalom et al16 reported astigmatism and hypermetropia as the most common refractive errors. In this study, myopic astigmatism was the most common, representing 40% of patients.…”

Section: Discussionmentioning

confidence: 99%

Refractive errors in Cameroonians diagnosed with complete oculocutaneous albinism

Eballe¹,

Mvogo

Noche³

et al. 2013

OPTH

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BackgroundAlbinism causes significant eye morbidity and amblyopia in children. The aim of this study was to determine the refractive state in patients with complete oculocutaneous albinism who were treated at the Gynaeco-Obstetric and Paediatric Hospital, Yaoundé, Cameroon and evaluate its effect on vision.MethodsWe carried out this retrospective study at the ophthalmology unit of our hospital. All oculocutaneous albino patients who were treated between March 1, 2003 and December 31, 2011 were included.ResultsThirty-five patients (70 eyes) diagnosed with complete oculocutaneous albinism were enrolled. Myopic astigmatism was the most common refractive error (40%). Compared with myopic patients, those with myopic astigmatism and hypermetropic astigmatism were four and ten times less likely, respectively, to demonstrate significant improvement in distance visual acuity following optical correction.ConclusionManaging refractive errors is an important way to reduce eye morbidity-associated low vision in oculocutaneous albino patients.

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Section: Discussionmentioning

confidence: 99%

Refractive errors in Cameroonians diagnosed with complete oculocutaneous albinism

Eballe¹,

Mvogo

Noche³

et al. 2013

OPTH

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“…In practice, the distinction is of limited clinical value. Albinism‐related visual impairment may be worse in OCA‐1A than in other types of albinism [Yahalom et al, ], but the variation within subtypes is large, making visual outcome predictions difficult [Gronskov et al, ]. Some have argued that subtyping would be useful for reproductive questions arising during genetic counseling [Dessinioti et al, ].…”

Section: Oca Clinical Diagnosis and Spectrummentioning

confidence: 99%

DNA Variations in Oculocutaneous Albinism: An Updated Mutation List and Current Outstanding Issues in Molecular Diagnostics

et al. 2013

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Oculocutaneous albinism (OCA) is a rare genetic disorder of melanin synthesis that results in hypopigmented hair, skin, and eyes. There are four types of OCA, caused by mutations in TYR (OCA-1), OCA2 (OCA-2), TYRP1 (OCA-3), or SLC45A2 (OCA-4). Here we report 22 novel mutations; 14 from a cohort of 61 patients seen as part of the NIH OCA Natural History Study and 8 from a prior study at the University of Minnesota. We also include a comprehensive list of almost 600 previously reported OCA mutations, along with ethnicity information, carrier frequencies, and in silico pathogenicity predictions. In addition to discussing the clinical and molecular features of OCA, we address the cases of apparent missing heritability. In our cohort, 25% of patients did not have two mutations in a single OCA gene. We demonstrate the utility of multiple detection methods to reveal mutations missed by Sanger sequencing. Finally, we review the TYR p.R402Q temperature sensitive variant and confirm its association with cases of albinism with only one identifiable TYR mutation.

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“…The lack of pigmentation of those born with OCA means that they are very sensitive to the damaging effects of the harsh African sun, causing severe sunburn, lesions and skin cancers. Albinism also affects eyesight in numerous ways including involuntary nystagmus (oscillation of the eyes), photophobia (extreme sensitivity to light), depth perception and squint (Yahalom et al ., ).…”

Section: Introductionmentioning

confidence: 97%

Witchcraft‐related Abuse and Murder of Children with Albinism in Sub‐Saharan Africa: A Conceptual Review

2019

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Babies born with the inherited condition albinism, resulting in reduced melanin pigment in their hair, skin and eyes, are vulnerable in multiple ways in Africa: as children, as visually impaired, as socially ostracised, isolated and excluded, and as potential victims of witchcraft‐related violence targeted for their body parts for use in ‘lucky’ charms thought to bring good fortune. This conceptual review summarises the scarce research on this topic within an integrated framework of otherness (highlighting the ways in which these children differ from others in their group and how this is perceived by themselves and others), watchfulness (the consequences and impact of this very visible difference on families and communities) and agency (what such children themselves and other people can do to respond to these abuses of human rights). The paucity of information on the lives of children with albinism in Africa limits the development of appropriate interventions to support, empower and, most importantly, protect them at this time of danger in the region. This review proposes a conceptual model to act as a platform for research on which to build and enhance our understanding of the lives of children with albinism in sub‐Saharan Africa. Key Practitioner Messages Mutilation and killing of people with albinism, particularly children, have increased over recent years. Very little is known about the physical and psychosocial issues facing children with albinism in the context of threats of assault and attack. Children with albinism are seen as ‘other’, with the violent context making them and their families watchful and vigilant. This threatens their agency and safety.

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Refractive profile in oculocutaneous albinism and its correlation with final visual outcome

Cited by 47 publications

References 13 publications

Refractive errors in Cameroonians diagnosed with complete oculocutaneous albinism

Refractive errors in Cameroonians diagnosed with complete oculocutaneous albinism

DNA Variations in Oculocutaneous Albinism: An Updated Mutation List and Current Outstanding Issues in Molecular Diagnostics

Witchcraft‐related Abuse and Murder of Children with Albinism in Sub‐Saharan Africa: A Conceptual Review

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