Albinism and Lasik

Albinism itself will normally not exclude a patient from conventional or custom wavefront Lasik, All-Laser Lasik, PRK, LASEK, Epi-Lasik, RLE, P-IOLs or other refractive surgery procedures, however many albinos are affected by nystagmus. It would be an absolute requirement that any laser used would have a tracking system that could adjust to the rapid eye movements of a patient with nystagmus.

Most lasers currently being manufactured for use in the United States use a method of eye tracking that should reduce or eliminate problems related to nystagmus.

If you are ready to choose a doctor to be evaluated for conventional or custom wavefront Lasik, All-Laser Lasik, PRK, LASEK, Epi-Lasik, NearVision CK, RLE, or any refractive surgery procedure, we highly recommend you consider a doctor who has been evaluated and certified by the USAEyes nonprofit organization. Locate a USAEyes Evaluated & Certified Lasik Laser Eye Surgeon.

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Current Albinism Medical Journal News...

Novel mutations in the HPS1 gene among Puerto Rican patients.

Related Articles

Novel mutations in the HPS1 gene among Puerto Rican patients.

Clin Genet. 2010 Jun 28;

Authors: Carmona-Rivera C, Hess R, O'Brien K, Golas G, Tsilou E, White J, Gahl WA, Huizing M

Carmona-Rivera C, Hess RA, O'Brien K, Golas G, Tsilou E, White JG, Gahl WA, Huizing M. Novel mutations in the HPS1 gene among Puerto Rican patients. Hermansky-Pudlak syndrome (HPS) is a disorder of oculocutaneous albinism (OCA) and platelet storage pool deficiency. Eight different disease-causing genes have been identified, whose gene products are thought to be involved in the biogenesis of lysosome-related organelles. HPS type 1 (HPS-1) is the most common HPS subtype in Puerto Rico, with a frequency of 1:1800 in the northwest of the island due to a founder mutation, i.e. a 16-bp duplication in exon 15 of the HPS1 gene (c.1472_1487dup16; p.H497QfsX90). We identified three Puerto Rican HPS-1 patients who carried compound heterozygous HPS1 mutations. One patient was heterozygous for c.937G>A, causing a missense mutation (p.G313S) at the 3' splice junction of exon 10. This mutation resulted in activation of a cryptic intronic splice site causing an aberrantly spliced HPS1 mRNA that included 144-bp of intronic sequence, producing 11 novel amino acids followed by a stop codon. The other two patients were heterozygous for the previously reported c.972delC in HPS1, resulting in a frameshift and a premature stop codon (p.M325WfsX6). These findings indicate that, among Puerto Ricans, other HPS1 mutations apart from the 16-bp duplication should be considered in the analysis of this population.

PMID: 20662851 [PubMed - as supplied by publisher]