1/71. Bilateral abortive cryptophthalmos associated with oculocutaneous albinism. PURPOSE: To document a case of bilateral abortive cryptophthalmos associated with oculocutaneous albinism. methods: We describe a 13-year-old female patient with blond skin and hair who had anomalous face and eyes first noted at birth. RESULTS: The patient had fair hair and complexion, bilateral anomalous wedge of scalp hair, upper eyebrow and eyelid deformities, cup-shaped ears, broad based nose with depressed bridge and midline groove, iris transillumination and diffuse hypopigmentation and foveal hypoplasia in fundus examination. CONCLUSION: Based on the clinical and laboratory findings, the reported case represents tyrosinase-positive oculocutaneous albinism together with bilateral abortive cryptophthalmos. The oculocutaneous albinism can either be an entirely new criterion to the whole syndrome of cryptophthalmos, or, more probably, the condition can be due to a double affliction which is primarily related with consanguinity of the parents. The importance of ante-natal diagnosis and genetic counseling are emphasized in such cases where the two recessive genes for two different conditions coexist. ( info) |
| Recently, the effectiveness of cochlear implantation for hereditary deafness has been reported. We performed cochlear implantation for two patients with symptomatic hereditary deafness. deafness in one patient was thought to be a result of albinism-deafness syndrome and in the other patient, a result of chronic progressive external ophthalmoplegia syndrome. Since their speech perception abilities improved dramatically, we believe that cochlear implantation should be actively performed for these two syndromes. ( info) |
3/71. A splicing mutation of the tyrosinase gene causes yellow oculocutaneous albinism in a Japanese patient with a pigmented phenotype. BACKGROUND: Yellow oculocutaneous albinism (OCA) that is caused by tyrosinase gene mutations shows two characteristics: extreme hypopigmentation at birth and the eventual development of yellow or blond hair. OBJECTIVE: We studied a Japanese girl who had brown hair, a lighter skin color than her unaffected family and brown eyes at 9 months of age. methods: We performed direct sequencing analyses of the tyrosinase gene in her genomic dna. RESULTS: The patient was a compound heterozygote for the DeltaC310 mutation (known to result in absent melanogenic activity) and a second t-->a transition at the 3' end of intron 2. CONCLUSION: The t-->a transition has previously been reported as a splicing mutation in other Caucasian patients with a typical yellow OCA phenotype. However, this patient showed much more pigmentation than that reported in Caucasians. Therefore, we estimate that the mild phenotype results from her genetic pigment background. ( info) |
| Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessively inherited disease with oculocutaneous albinism, hemorrhagic diathesis, and multisystemic deposition of ceroid lipofuscin. We report a case with all symptoms characteristic of HPS. The patient was a mentally retarded albino with mild bleeding diathesis, and her course was complicated by granulomatous colitis refractory to medical treatment and progressive, fatal pulmonary fibrosis. ( info) |
5/71. Heterozygous HPS1 mutations in a case of Hermansky-Pudlak syndrome with giant melanosomes. We report a Japanese man with Hermansky-Pudlak syndrome, having oculocutaneous albinism with a bleeding diathesis. Gene analysis of the patient's peripheral blood cells revealed that he was a compound heterozygote for HPS1 gene mutations. One of the mutations was a novel frameshift mutation at codon 321 (a G insertion) in exon 11 ( approximately 962-963insG), and the other was a 5' splice-junction mutation of IVS5 (IVS5 5G-->A). The content of eumelanin in the patient's hairs was significantly reduced. Histological analysis using light and electron microscopy revealed that melanocytes in the patient's epidermis contained an appreciable number of giant melanosomes. Cultured melanocytes from the patient's skin also contained giant melanosomes. Our finding of mutations in the HPS1 gene in relation to abnormalities in melanosome morphology and melanin production shed light on the role and function of the HPS1 gene product in the synthesis of melanosomes and melanin pigment. ( info) |
6/71. Malignant melanoma in a patient with oculocutaneous albinism. BACKGROUND: Sun-induced malignancies (basal cell and squamous cell carcinomas) are common in oculocutaneous albinism, however, the incidence of malignant melanoma is a topic of controversy. OBJECTIVE: We have reviewed the literature and report a case of a woman with oculocutaneous albinism with an amelanotic melanoma of the anterior chest wall. RESULTS: There are only 26 previously reported cases (both case reports and African albino population studies) in 25 patients in the literature. A 27th case with immunohistochemical and ultrastructural evaluation is presented. CONCLUSIONS: It appears that melanoma, a malignancy for which sun exposure and light colouration are felt to be major risk factors, has a low incidence among a population that is both hypopigmented and often exposed to high levels of ultraviolet light. This low incidence is poorly understood and frequently disputed. ( info) |
7/71. Oculocutaneous albinism and reduced bone density in two sibs: a new autosomal recessive syndrome? A sister and brother, with oculocutaneous albinism and reduced bone density are described. Autosomal recessive inheritance is possible. This association has not been previously described. ( info) |
8/71. Leucodystrophy and oculocutaneous albinism in a child with an 11q14 deletion. We report a patient with an undetermined leucodystrophy associated with type 1A oculocutaneous albinism (OCA). Type 1 OCA results from recessive mutations in the tyrosinase gene (TYR) located in 11q14.3. The patient was found by FISH to carry a deletion of at least the first exon of the TYR gene on one chromosome and a (TG) deletion at codon 244/245 on the second chromosome. The existence of the microdeletion suggested that a gene responsible for leucodystrophy was located in the vicinity of the TYR gene. A combination of a test of hemizygosity and contig mapping studies allowed us to map the gene within a 0.6 cM region flanked by microsatellite markers D11S1780 and D11S931. ( info) |
9/71. A new association of congenital hydrocephalus, albinism, megalocornea, and retinal coloboma in a syndromic child: a clinical and genetic study. We describe a child with global developmental delay, prominent metopic suture, trigonocephaly, and cryptorchidism whose symptoms resemble the well-known 9p deletion syndrome or 9p monosomy. We also noted congenital hydrocephalus, oculocutaneous albinism, retinal coloboma, and megalocornea, which are not typical features of 9p monosomy. When a new albinism gene was localized to 9p (Chintamaneni et al., Biochem Biophys Res Commun 1991;178:227-235; Murty et al., genomics 1992;13:227-229), we hypothesized that our patient had the 9p deletion syndrome plus albinism, with the deletion involving the albinism gene. We used FISH probes to test this hypothesis and found that the 9p region was normal, therefore excluding the 9p deletion syndrome. To our knowledge, the association of congenital hydrocephalus, albinism, megalocornea, and retinal coloboma has not been described in the literature. The purpose of this report is to describe this new association of congenital ocular and cerebral anomalies in a syndromic child. ( info) |
10/71. Sickle cell disease presenting with extensive peri-macular arteriolar occlusions in a nine-year-old boy. PURPOSE: To report a dramatic occlusive event of the macula surrounding the foveal avascular zone, causing severe and permanent loss of vision in a child with sickle cell disease. methods: Case report. A nine-year-old boy with SS hemoglobinopathy and oculocutaneous albinism developed acute unilateral loss of vision. RESULTS: ophthalmoscopy revealed a pale, milky white, thickened retinal lesion centered on the fovea in the right eye as well as foveal hypoplasia in the left eye. The presence of macular malformation associated with oculocutaneous albinism precluded formation of a cherry-red spot. fluorescein angiography of the right eye demonstrated extensive occlusions of the arterioles surrounding the foveal avascular zone. The presence of occlusions surrounding the fovea from multiple directions suggested the possibility of central retinal artery occlusion with migration of microemboli downstream. CONCLUSION: The patient, the youngest case reported, developed an irreversible macular infarction that was not improved by an exchange erythrocyte transfusion. He was placed on a long-term monthly transfusion protocol to protect his unaffected eye. ( info) |