Neurodevelopment in Children with Albinism

Kutzbach, Beth R.; Summers, C. Gail; Holleschau, Ann M.; MacDonald, John T.

doi:10.1016/j.ophtha.2008.03.006

Cited by 26 publications

(21 citation statements)

References 23 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…1 We have previously shown that individuals with albinism have normal neurodevelopment with the exception of an increased prevalence of attention deficit hyperactivity disorder. 11,18 In addition, restricted visual field is not a characteristic of albinism. Although the population studied is heterogeneous in terms of type of albinism and visual acuity, other factors that might affect reading performance were not present.…”

Section: Discussionmentioning

confidence: 99%

Reading acuity in albinism: Evaluation with MNREAD charts

Merrill

Hogue

Downes

et al. 2011

Journal of American Association for Pediatric Ophthalmology and

Self Cite

View full text Add to dashboard Cite

Section: Discussionmentioning

confidence: 99%

Reading acuity in albinism: Evaluation with MNREAD charts

Merrill

Hogue

Downes

et al. 2011

Journal of American Association for Pediatric Ophthalmology and

Self Cite

View full text Add to dashboard Cite

“…3 Nonpathogenic polymorphisms of the OCA2 gene may be related to variation in iris color in all people. 1 In 2015, the Human Gene Mutation Database categorized 178 known mutations of the OCA2 gene; the majority were missense mutations (91) followed by small deletions (20) and splicing (16). 6,7…”

Section: Pathophysiologymentioning

confidence: 99%

Unseen Impairment: Pediatric Primary Care Management of Oculocutaneous Albinism 2

Kronick¹,

John²

2016

The Journal for Nurse Practitioners

View full text Add to dashboard Cite

Oculocutaneous albinism type 2 (OCA2), an autosomal recessive mutation of the OCA2 gene on chromosome 15, results in ocular and dermatologic manifestations. In primary care, nurse practitioners must detect the condition, refer to specialists, provide psychosocial support, refer to community resources, and coordinate care for children with this disorder. This article discusses the pathophysiology, epidemiology, and differential diagnosis of OCA2 as well as a discussion of the clinical implications and nurse practitioner management of the condition. The unique psychosocial effects of having the OCA2 mutation are less frequently explored in the current literature and are highlighted in this article.

show abstract

“…10,11 Interestingly, recent work has shown age-appropriate levels of reading ability even in the presence of severe visual problems. 12,13 The strong consensus of the scientific community is that reading problems, including dyslexia, are not caused by vision abnormalities. 10 This consensus has not yet been tested in a large population cohort.…”

Section: What This Study Addsmentioning

confidence: 99%

Ophthalmic Abnormalities and Reading Impairment

et al. 2015

View full text Add to dashboard Cite

OBJECTIVES: To explore associations between specific learning disorder with impairment in reading (dyslexia) and ophthalmic abnormalities in children aged 7 to 9 years.METHODS: Cross-sectional analysis was performed on cohort study data from the Avon Longitudinal Study of Parents and Children. Reading impairment was defined according to Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition criteria. Children who achieved .2 SD below the mean in the Neale Analysis of Reading Ability Scale II and level ,4 in nonmathematical national key stage 2 tests were defined as having severe reading impairment (SRI). Children with blindness or IQ ,70 were excluded.RESULTS: Data were available for 5822 children, of whom 172 (3%) met the criteria for SRI. No association was found between SRI and strabismus, motor fusion, sensory fusion at a distance, refractive error, amblyopia, convergence, accommodation, or contrast sensitivity. Abnormalities in sensory fusion at near were mildly higher in children with SRI compared with their peers (1 in 6 vs 1 in 10, P = .08), as were children with stereoacuity worse than 60 seconds/arc (1 in 6 vs 1 in 10, P = .001).CONCLUSIONS: Four of every 5 children with SRI had normal ophthalmic function in each test used. A small minority of children displayed minor anomalies in stereoacuity or fusion of near targets. The slight excess of these children among those with SRI may be a result of their reading impairment or may be unrelated. We found no evidence that vision-based treatments would be useful to help children with SRI.WHAT'S KNOWN ON THIS SUBJECT: Dyslexia has a lifelong impact on learning. The consensus in the literature from clinical studies is that dyslexia is not caused by vision abnormalities. However, interventions and therapies directed at eye-related functions are still available. WHAT THIS STUDY ADDS:In this cohort the majority of dyslexic children had normal results for all ophthalmic tests. These population-based data support the consensus that dyslexia is not primarily a vision problem and that vision-based therapies are not justified or likely to help. Dr Creavin planned the study questions, analyzed the data, interpreted the results, and wrote the manuscript; Dr Lingam planned the study questions and the original clinical assessment of the Avon Longitudinal Study of Parents and Children (ALSPAC) children along with the rest of the ALSPAC team and was involved in interpreting the results and writing the final manuscript; Dr Steer was involved in interpreting the results and writing the final manuscript; and Dr Williams planned the study questions and the original clinical assessment of the ALSPAC children along with the rest of the ALSPAC team and was involved in interpreting the results and writing the final manuscript. A number of neurodevelopmental conditions are associated with ophthalmic abnormalities. 7-9 Reading requires adequate vision and the neurologic ability to identify what is seen, and consequently the study of difficulties in vision and vis...

show abstract

Neurodevelopment in Children with Albinism

Cited by 26 publications

References 23 publications

Reading acuity in albinism: Evaluation with MNREAD charts

Reading acuity in albinism: Evaluation with MNREAD charts

Unseen Impairment: Pediatric Primary Care Management of Oculocutaneous Albinism 2

Ophthalmic Abnormalities and Reading Impairment

Contact Info

Product

Resources

About