PURPOSE: To report optical coherence tomography (OCT) findings in albinism. METHODS: Full ocular examinations, including OCT, were performed in one patient with ocular albinism and two patients with oculocutaneous albinism. RESULTS: OCT scans were unable to detect the foveal depression in these patients. A widespread thickening of the retina occurred throughout the entire fovea, which showed no difference from the surrounding macula. OCT scans also demonstrated probable scleral layer below the retinal pigment epithelial (RPE) layer. CONCLUSIONS: OCT scans of albinism patients confirmed foveal hypoplasia and increased transmission of incident light in the RPE layer.
Albinism* ; Albinism, Ocular ; Albinism, Oculocutaneous ; Depression ; Humans ; Retina ; Retinaldehyde ; Tomography, Optical Coherence*

Albinism is an inherited ongenital disarder in which there is sgr neralized decrease or absence of pigrnent in the eyes, skin, and hair. There are two general groups (1) Oculocutneou albinism, (2) Ocular albinism. Skin cancers in albinos are rare in ternperate clirnats and t.hey occur rnostly on sun ex posed areas. We present a case of recurrance of squarnous cell carcinoma ir a Korean albinoid on both sides of the neck and right ear. On liistopathologic examination, we find I or pearls, and irregular mases of epidermal cells that proliferite downward into the devmis. The invaing cell masses are composed of atypical squamous cells.
Albinism ; Albinism, Ocular ; Carcinoma, Squamous Cell* ; Ear ; Hair ; Neck ; Skin ; Skin Neoplasms ; Solar System

Ocular albinism is a rare condition of abnormality in the cellular metabolism of the product of melanin in the ocular tissue. This disease is transmitted as an imtermediate sex linked recessive. This condition was first described by Nettleship in 1909. In addition, many authors described this condition. The fundamentalelinical symptoms and signs are lowered visual acuity, photophobia, nystagmus, the yellow-orange color of the fundus with the choroidal vessels perfectly visible, absence of the foveal reflex and iris that transilluminates well with scleral illumination. Recently, we experienced two cases of typical ocular albinism.
Albinism, Ocular* ; Choroid ; Iris ; Lighting ; Melanins ; Metabolism ; Photophobia ; Reflex ; Visual Acuity

PURPOSE: To estimate the baseline demographic/ocular characteristics and associated findings of patients with foveal hypoplasia. METHODS: The medical records of 42 patients (84 eyes) who were clinically diagnosed with foveal hypoplasia were retrospectively reviewed. RESULTS: There were 28 males and 14 females with mode age at diagnosis of 1 (range, 0-60 years) year and a mean follow-up period of 9.7 +/- 5.4 years. At the first office visit, the most common complaints were ocular oscillation and face turn. There were 75 eyes (91.5%) with best corrected visual acuity worse than 0.3 at the first visit, but that number decreased to 55 eyes (67.1%) at the last follow-up (age range, 7-60 years). The absolute spherical equivalent of refractive errors was 2.89 +/- 2.96 diopters (D), and 71 eyes had astigmatism with a mean astigmatism of 2.1 +/- 1.1 D. Forty-two patients had associated diseases: 15 (35.7%) with aniridia, 16 (38.1%) with ocular albinism and 11 (26.2%) with oculocutaneous albinism. In addition, strabismus was found in 24 patients (57.1%). CONCLUSIONS: Diseases associated with foveal hypoplasia include aniridia, ocular albinism and oculocutaneous albinism. Since foveal hypoplasia is often associated with high refractive errors and poor vision, an early prescription of eyeglasses is mandatory for management of refractive amblyopia to ensure the development of the best corrected visual acuity.
Albinism, Ocular ; Albinism, Oculocutaneous ; Amblyopia ; Aniridia ; Astigmatism ; Dietary Sucrose ; Eye ; Eyeglasses ; Female ; Follow-Up Studies ; Humans ; Male ; Medical Records ; Office Visits ; Prescriptions ; Refractive Errors ; Retrospective Studies ; Strabismus ; Vision, Ocular ; Visual Acuity

OBJECTIVETo detect mutation of GPR143 gene in a Chinese patient affected with ocular albinism.

METHODSPeripheral blood samples were collected from the proband and his parents. The coding regions of the GPR143 gene were subjected to PCR amplification and Sanger sequencing.

RESULTSA previously unreported mutation (c.758T>A) was found in exon 6 of the GPR143 gene in the proband and his mother. The same mutation was not found in his father. As predicted, the mutation has resulted in a stop codon, causing premature termination of protein translation.

CONCLUSIONA novel mutation of the GPR143 gene related to X-linked ocular albinism has been identified.

Adult ; Albinism, Ocular ; genetics ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Eye Proteins ; genetics ; Female ; Genetic Diseases, X-Linked ; genetics ; Humans ; Infant ; Male ; Membrane Glycoproteins ; genetics ; Molecular Sequence Data ; Mutation