Abstract
Purpose :
To describe epidemiological features, clinical presentation, and visual rehabilitation in cases of oculocutaneous albinism in México City.
Methods :
Retrospective chart review of patients with oculocutaneos albinism diagnosis over a 13 year period (2004-2017) in the Institute of Ophthalmology, “Conde de Valenciana,” Mexico City. Epidemiological, clinical, and visual rehabilitation data were recorded and entered into a computer database and analyzed using IBM SPSS 20 Analytic Software.
Results :
A total of 39 patients with diagnosis of oculocutaneous albinism were included; 20 (51.3%) males and 19 (48.7%) females. Ages ranged from 6 months to 48 years (mean 12.03 +/-12.55). Twenty-one out of the 39 patients (53.8%) had a positive family history of albinism while 18 patients had no family history. Chief complain was strabismus (38.5%) and poor vision (61.5%). Mean visual acuity for the right eye was 1.17 +/- 0.19 (0.7-1.5) and for the left eye was 1.17 +/- 0.20 (0.7-1.5). Average best-corrected visual capacity was 0.92 +/- 0.22 logMAR. Main refractive error for both eyes was myopic astigmatism (35.8%); sphere range -9.00D to +7.00D, cylinder range -0.25D to -7.00D, spherical equivalent range -10.00D to +5.50D. Nystagmus was found in all patients, 69.2% presented with strabismus: esotropia 46.2%, exotropia 23.1%, nystagmus blockage syndrome 9%. Most common anterior segment finding was iris transillumination defects (92%) and only one patient had congenital cataract. Posterior segment findings were hypopigmentation of the retina (28.2%), foveal hypoplasia (95%) and optic nerve hypoplasia (89.7%). Hermansky–Pudlak syndrome was detected in 2 cases (5.1%). Surgical treatment of strabismus was performed in 5 patients being recession of both internal rectus the main procedure. Visual correction with spectacles was found in 100% of patients; special visual aids included use of telescope 23.1%, magnifying glass 23.1% and coloured filters 38.5%. Visual rehabilitation and special education was given to 59% of our patients.
Conclusions :
Albinism is a condition that requires further attention. Due to the lack of retinal pigment required for the normal development of the visual system these individuals experience photophobia, myopia, nystagmus and strabismus. In Mexico we need more progress in terms of medical, rehabilitation and social care. We hope to further increase the awareness of this entity throughout the country in the future.
This is an abstract that was submitted for the 2018 ARVO Annual Meeting, held in Honolulu, Hawaii, April 29 - May 3, 2018.