eMedicine Specialties > Ophthalmology > Ophthalmology for the General Practitioner
Ocular Manifestations of Albinism: Treatment & Medication
Updated: Oct 13, 2008
- Overview
- Differential Diagnoses & Workup
- Treatment & Medication
- Follow-up
Treatment
Medical Care
No specific medical treatment is available. Refractive errors should be corrected, and some patients benefit from bifocal lenses. If visual acuity is severely impaired, these patients can be helped with telescopic and other low-vision devices.
Surgical Care
Surgical management in patients with ocular involvement is limited to ocular muscle surgery.
- Strabismus surgery for esotropia or exotropia can be considered for better ocular alignment.
- Large 4 muscle horizontal rectus recessions have been reported to improve visual acuity in some patients with nystagmus.
- If coexistent retinal disease is present and laser photocoagulation is required (eg, for patients with diabetic retinopathy or retinal tears), laser treatment may be ineffective. Laser photocoagulation requires pigment in the retinal pigment epithelial cells for adequate absorption of laser energy. If the pigment is insufficient for adequate absorption of energy, cryopexy may be used as an alternative to treat peripheral retinal lesions. For posterior retinal pathology, the cryopexy probe is not accessible and no alternative treatment is available.
Consultations
Depending on patient presentation and historical or physical findings, appropriate consultations from various subspecialties should be obtained.
- Hematology
- For patients with a history of easy bruising and bleeding diathesis (to rule out Hermansky-Pudlak syndrome, which is more common in Puerto Ricans)
- For patients with a history of recurrent infections (to rule out Chediak-Higashi syndrome)
- Genetics - For additional genetic analysis or for genetic counseling for patients and their families
- Dermatology - For patients with any skin lesions or any signs suggestive of skin cancer, or for dermatologic counseling (to avoid excessive sun exposure)
- Low-vision specialist - Patients may benefit from low-vision aids to help with their daily visual activities.
More on Ocular Manifestations of Albinism |
| Overview: Ocular Manifestations of Albinism |
| Differential Diagnoses & Workup: Ocular Manifestations of Albinism |
Treatment & Medication: Ocular Manifestations of Albinism |
| Follow-up: Ocular Manifestations of Albinism |
| References |
| « Previous Page | Next Page » |
References
Garrod AE. Inborn errors of metabolism. Lecture II. Lancet. 1908;2:73-79.
Seo JH, Yu YS, Kim JH, et al. Correlation of visual acuity with foveal hypoplasia grading by optical coherence tomography in albinism. Ophthalmology. Aug 2007;114(8):1547-51. [Medline].
Abadi R, Pascal E. The recognition and management of albinism. Ophthalmic Physiol Opt. Jan 1989;9(1):3-15. [Medline].
Carden SM, Boissy RE, Schoettker PJ, et al. Albinism: modern molecular diagnosis. Br J Ophthalmol. Feb 1998;82(2):189-95. [Medline].
Creel D. Problems of ocular miswiring in albinism, Duane's syndrome, and Marcus Gunn phenomenon. Int Ophthalmol Clin. Spring 1984;24(1):165-76. [Medline].
Creel D, Witkop CJ Jr, King RA. Asymmetric visually evoked potentials in human albinos: evidence for visual system anomalies. Invest Ophthalmol. Jun 1974;13(6):430-40. [Medline].
Creel DJ, Summers CG, King RA. Visual anomalies associated with albinism. Ophthalmic Paediatr Genet. Sep 1990;11(3):193-200. [Medline].
Davis PL, Baker RS, Piccione RJ. Large recession nystagmus surgery in albinos: effect on acuity. J Pediatr Ophthalmol Strabismus. Sep-Oct 1997;34(5):279-83; discussion 283-5. [Medline].
François J. Albinism. Ophthalmologica. 1979;178(1-2):19-31. [Medline].
Garner A, Jay BS. Macromelanosomes in X-linked ocular albinism. Histopathology. May 1980;4(3):243-54. [Medline].
Hermansky F, Pudlak P. Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies. Blood. Feb 1959;14(2):162-9. [Medline].
Ilia M, Jeffery G. Retinal mitosis is regulated by dopa, a melanin precursor that may influence the time at which cells exit the cell cycle: analysis of patterns of cell production in pigmented and albino retinae. J Comp Neurol. Mar 15 1999;405(3):394-405. [Medline].
Jeffery G. The retinal pigment epithelium as a developmental regulator of the neural retina. Eye. 1998;12 (Pt 3b):499-503. [Medline].
Jeffery G, Schutz G, Montoliu L. Correction of abnormal retinal pathways found with albinism by introduction of a functional tyrosinase gene in transgenic mice. Dev Biol. Dec 1994;166(2):460-4. [Medline].
Kerr R, Stevens G, Manga P, et al. Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa. Hum Mutat. 2000;15(2):166-72. [Medline].
King RA, Hearing VJ, Creel DJ. Albinism. In: Scriver CR, Beauder AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. 7th ed. New York: McGraw Hill; 1995:4353-92.
Kinnear PE, Jay B, Witkop CJ Jr. Albinism. Surv Ophthalmol. Sep-Oct 1985;30(2):75-101. [Medline].
Kriss A, Russell-Eggitt I, Harris CM, et al. Aspects of albinism. Ophthalmic Paediatr Genet. Jun 1992;13(2):89-100. [Medline].
Lyle WM, Sangster JO, Williams TD. Albinism: an update and review of the literature. J Am Optom Assoc. Oct 1997;68(10):623-45. [Medline].
O'Donnell FE Jr, Green WR, Fleischman JA, et al. X-linked ocular albinism in Blacks. Ocular albinism cum pigmento. Arch Ophthalmol. Jul 1978;96(7):1189-92. [Medline].
Oetting WS. Albinism. Curr Opin Pediatr. Dec 1999;11(6):565-71. [Medline].
Oetting WS, Brilliant MH, King RA. The clinical spectrum of albinism in humans. Mol Med Today. Aug 1996;2(8):330-5. [Medline].
Oetting WS, King RA. Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism. Hum Mutat. 1999;13(2):99-115. [Medline].
Oetting WS, Summers CG, King RA. Albinism and the associated ocular defects. Metab Pediatr Syst Ophthalmol. 1994;17(1-4):5-9. [Medline].
Palmisano I, Bagnato P, Palmigiano A, Innamorati G, Rotondo G, Altimare D, et al. The ocular albinism type 1 (OA1) protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells. Hum Mol Genet. Aug 18 2008;[Medline].
Schiaffino MV, Tacchetti C. The ocular albinism type 1 (OA1) protein and the evidence for an intracellular signal transduction system involved in melanosome biogenesis. Pigment Cell Res. Aug 2005;18(4):227-33. [Medline].
Smith SA, Wong PK, Jan JE. Unilateral alpha reactivity: an electroencephalographic finding in albinism. J Clin Neurophysiol. Mar 1998;15(2):146-9. [Medline].
Spritz RA. Molecular genetics of oculocutaneous albinism. Hum Mol Genet. 1994;3 Spec No:1469-75. [Medline].
Summers CG, Knobloch WH, Witkop CJ Jr, et al. Hermansky-Pudlak syndrome. Ophthalmic findings. Ophthalmology. Apr 1988;95(4):545-54. [Medline].
Weleber RG, Pillers DA, Powell BR, et al. Aland Island eye disease (Forsius-Eriksson syndrome) associated with contiguous deletion syndrome at Xp21. Similarity to incomplete congenital stationary night blindness. Arch Ophthalmol. Aug 1989;107(8):1170-9. [Medline].
Witkop CJ Jr, White JG, Nance WE, et al. Classification of albinism in man. Birth Defects Orig Artic Ser. Jun 1971;7(8):13-25. [Medline].
Further Reading
Keywords
ocular manifestations of albinism, albinism, ocular albinism, oculocutaneous albinism, melanin, pigmentation abnormality
Treatment & Medication: Ocular Manifestations of Albinism