title: Visual deficits in Nepalese patients with oculocutaneous albinism.
abstract: BACKGROUND
  Albinism poses a significant threat to visual functions and causes remarkable ocular morbidity often resulting in visual disabilities. The study aimed at describing the visual status in patients with diagnosed cases of complete oculocutaneous albinism (OCA) attending to a tertiary eye hospital in Nepal.
  
  
  METHODS
  This was a cross-sectional descriptive hospital-based study of all diagnosed oculocutaneous albinotic cases (16 males and 9 females; mean age of 16 years) who visited the Department of Ophthalmology at the Institute of Medicine, for ocular consultation between September 1, 2011 and December 1, 2013.
  
  
  RESULTS
  Twenty-five cases (50 eyes) with OCA were enrolled in the study. All the participants had maximally reduced visual acuity (mean: 1.24±0.50logMAR). Myopic astigmatism was the most common refractive error (n=17; 34%). 58% of all participants had with-the-rule astigmatism. Considering the spherical equivalent power, most of the eyes (n=30; 60%) had myopia, with overall mean SE refractive error of -1.59±5.39D. Visual acuity improved significantly with refractive correction in place (paired sample t-test, p<0.05). Horizontal pendular nystagmus was the most common nystagmus (n=34 eyes; 68%). Alternating esotropia and alternating exotropia each were observed in 16% of participants who had strabismus (40% of all cases). The diaphanous iris, foveal hypoplasia and poliosis were the most consistent clinical features.
  
  
  CONCLUSIONS
  Patients with OCA present with a broad spectrum of visual deficits that impair the visual functions. Significant improvement in visual acuity following optical correction serves as an impetus to the reduction of visual disabilities in individuals with albinism.
authors.affiliation: College of Optometry, Southwestern University, Cebu City, Philippines. Electronic address: safalkhanal@iom.edu.np.
authors.forename: Safal
authors.initials: S
authors.lastname: Khanal
authors.affiliation: Kathmandu Medical College Teaching Hospital, Kathmandu, Nepal.
authors.forename: Amrit
authors.initials: A
authors.lastname: Pokharel
authors.affiliation: Brien Holden Vision Institute, Department of Optometry and Vision Sciences, MMUST, Kenya.
authors.forename: Himal
authors.initials: H
authors.lastname: Kandel
mesh_terms: D000293:Adolescent; D000328:Adult; D016115:Albinism, Oculocutaneous / Q000150:complications*; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D005128:Eye Diseases / Q000453:epidemiology / Q000209:etiology*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009390:Nepal; D009759:Nystagmus, Pathologic / Q000209:etiology; D015995:Prevalence; D012030:Refractive Errors / Q000209:etiology; D013285:Strabismus / Q000209:etiology; D014481:United States / Q000453:epidemiology; D014786:Vision Disorders / Q000453:epidemiology / Q000209:etiology*; D014792:Visual Acuity / Q000502:physiology; D055815:Young Adult
keywords: Albinism; Albinismo; Error refractivo; Esotropia; Esotropía; Nepal; Nistagmo; Nystagmus; Refractive error
references.citation: Optom Vis Sci. 1992 Aug;69(8):623-8
references.pmid: 1513558
references.citation: Ophthalmology. 1988 Apr;95(4):545-54
references.pmid: 3174014
references.citation: Clin Ophthalmol. 2013;7:1491-5
references.pmid: 23901257
references.citation: Br J Physiol Opt. 1976;31(2):47-87
references.pmid: 1031336
references.citation: Vision Res. 2010 Apr 7;50(8):810-7
references.pmid: 20149815
references.citation: Optom Vis Sci. 2009 Jun;86(6):659-62
references.pmid: 19390472
references.citation: J Pediatr Ophthalmol Strabismus. 1986 Mar-Apr;23(2):58-63
references.pmid: 3958871
references.citation: Klin Monbl Augenheilkd. 1987 Nov;191(5):397-402
references.pmid: 3431012
references.citation: Br J Ophthalmol. 1998 Feb;82(2):189-95
references.pmid: 9613388
references.citation: Optom Vis Sci. 2002 May;79(5):292-9
references.pmid: 12035986
references.citation: Ophthalmic Physiol Opt. 1984;4(1):3-13
references.pmid: 6709367
references.citation: Sante. 2010 Jul-Sep;20(3):133-8
references.pmid: 21118789
references.citation: Arch Dis Child. 1999 Jun;80(6):565-9
references.pmid: 10332009
references.citation: J AAPOS. 2001 Apr;5(2):98-104
references.pmid: 11304818
references.citation: J AAPOS. 2004 Jun;8(3):237-9
references.pmid: 15226723
references.citation: Sante. 2010 Jan-Mar;20(1):35-9
references.pmid: 20348057
references.citation: Trans Ophthalmol Soc U K. 1978;98(4):423-45
references.pmid: 115122
references.citation: Invest Ophthalmol Vis Sci. 2000 Jan;41(1):1-7
references.pmid: 10634592
references.citation: Ophthalmic Physiol Opt. 1989 Jan;9(1):3-15
references.pmid: 2512527
references.citation: Sante. 1999 Mar-Apr;9(2):89-91
references.pmid: 10377495
references.citation: Sight Sav Rev. 1971;41(7):29-36
references.pmid: 5563161
references.citation: Ophthalmic Paediatr Genet. 1984 Dec;4(3):155-61
references.pmid: 6443616
references.citation: Orphanet J Rare Dis. 2007;2:43
references.pmid: 17980020
references.citation: Am J Optom Physiol Opt. 1985 Oct;62(10):680-8
references.pmid: 4073201
references.citation: Trans Am Ophthalmol Soc. 1996;94:1095-155
references.pmid: 8981720