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CLINICAL IMAGES
Year : 2009  |  Volume : 2  |  Issue : 1  |  Page : 43-45 Table of Contents   

Albinism: Images in ophthalmology


Department of Ophthalmology, Sultan Qaboos University Hospital, Muscat, Oman

Correspondence Address:
O K Sreelatha
Department of Ophthalmology, Sultan Qaboos University Hospital, Muscat
Oman
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0974-620X.48423

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How to cite this article:
Sreelatha O K, Al-Harthy E, VanRijen-Cooymans P, Al-Zuhaibi S, Ganesh A. Albinism: Images in ophthalmology. Oman J Ophthalmol 2009;2:43-5

How to cite this URL:
Sreelatha O K, Al-Harthy E, VanRijen-Cooymans P, Al-Zuhaibi S, Ganesh A. Albinism: Images in ophthalmology. Oman J Ophthalmol [serial online] 2009 [cited 2020 Feb 20];2:43-5. Available from: http://www.ojoonline.org/text.asp?2009/2/1/43/48423


   Introduction Top


An 8-year-old child, daughter of Omani parents, presented to the pediatric ophthalmology clinic of Sultan Qaboos University Hospital, Oman, with defective vision, photophobia, and rapid movements of both eyes since birth. The child was otherwise healthy. Both parents were healthy and the marriage was first degree consanguineous. There was a positive family history of similar problems in the patient's younger brother and paternal aunt. Clinical examination concluded with the diagnosis of oculocutaneous albinism. The patient's sibling was also examined and diagnosed with the same condition.


   Comment Top


Albinism (origin - Latin word albus which means white) refers to a group of hereditary disorders with an abnormality of melanin synthesis or distribution. The incidence of oculocutaneous albinism in Oman is 1 in 30,000 live births.[1] There are various types of albinism [Table 1]. The main clinical features are hypopigmentation of hair, skin, and eyes. Ophthalmic manifestations include photophobia, nystagmus, defective vision, and squint. The visual acuity in patients with albinism usually is poor and ranges from 20/60 to 20/400. Visual prognosis is usually guarded. However, the children with albinism grow and develop normally and reach normal intelligence levels. [2] The visual-evoked potential test (VEP) is a sensitive diagnostic modality for confirming the diagnosis of albinism. Patients with albinism show an asymmetry of VEP between the two eyes secondary to misrouting of optic pathways. [3] Optical coherence tomography (OCT) is useful in identifying foveal hypoplasia in patients with albinism. [4]

There is no medical cure for albinism. Supportive care includes: 1] Periodic examination of patients to monitor their visual development and to assess the status of their refractive error and/or strabismus. 2] Vision rehabilitation by correction of refractive errors, use of filter/tinted glasses and caps/visors and prescription of low visual aids and vision enhancing tips. 3] Skin care: There is an increased risk of skin cancer in these patients. They should be advised to use skin-tanning lotion with Sun Protection Factor of 15 or greater and proper clothing for protection against exposure to sunlight. 4] Referral to appropriate sub-specialists for systemic evaluation. 5] Genetic testing and counseling for patients and their families. 6] Counseling by a social worker for social support and to dispel existing myths about albinism.[6][Figure 1],[Figure 2],[Figure 3],[Figure 4]


   Acknowledgement Top


We thank Dr. Nadia Al-Kharousi, Head of the Department of Ophthalmology, Sultan Qaboos University Hospital, Oman for her support in the preparation of this manuscript.

 
   References Top

1.Rajab A, Bappal B, Al-Shaikh H, Al-Khusaibi S, Mohammed AJ. Common autosomal recessive diseases in Oman derived from a hospital-based registry. Community Genet 2005;8:27-30.  Back to cited text no. 1  [PUBMED]  [FULLTEXT]
2.Kutzbach BR, Summers CG, Holleschau AM, MacDonald JT. Neurodevelopment in children with albinism. Ophthalmology 2008;115: 1805-8.  Back to cited text no. 2  [PUBMED]  [FULLTEXT]
3.Hoffmann MB, Schmidtborn LC, Morland AB. Abnormal representations in the visual cortex of patients with albinism: Diagnostic aid and model for the investigation of the visual cortex. Ophthalmology 2007;104:666-73.  Back to cited text no. 3    
4.Izquierdo NJ, Emanuelli A, Izquierdo JC, Garcνa M, Cadilla C, Berrocal MH. Foveal thickness and macular volume in patients with oculocutaneous albinism. Retina 2007;27:1227-30.  Back to cited text no. 4    
5.Scheinfeld NS. Syndromic albinism: A review of genetics and phenotypes. Dermatol Online J 2003;95:5.   Back to cited text no. 5    
6.The national organization for albinism and hypopigmentation. Available from: http://www.albinism.org.2007   Back to cited text no. 6    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4]
 
 
    Tables

  [Table 1]



 

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