ABSTRACT
Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by oculocutaneous albinism (OCA), platelet dysfunction, and ceroid storage. It is common among the Puerto Rican population and is expected to spread within the United States and other countries. Due to the platelet deficiency, these patients are of major concern to pediatric dentists. The purpose of this article is to explain in detail the characteristic triad of this syndrome and to propose an adequate approach to perform dental treatment, using appropriate protection recommendations for HPS patients. Recommendations for dental treatment are considered. They include the use of: (1) eyeglasses with 99 UV filter to protect them from the unpleasant dental light stimulus; (2) an extra-soft toothbrush and conservative brushing technique; (3) medication with antifibrinolitic agents; and (4) local measures to achieve hemostasis.
Subject(s)
Dental Care for Children , Dental Care for Chronically Ill , Hermanski-Pudlak Syndrome , Antifibrinolytic Agents/therapeutic use , Child , Equipment Design , Eye Protective Devices/classification , Hemostatic Techniques , Hermanski-Pudlak Syndrome/genetics , Hermanski-Pudlak Syndrome/physiopathology , Humans , Toothbrushing/instrumentation , Ultraviolet RaysABSTRACT
PURPOSE: To study color vision in patients with oculocutaneous albinism (OCA) METHODS: We evaluated color vision in 42 patients with OCA using the HRR color plates. Sixty seven percent of the patients had the Hermansky-Pudlak syndrome (HPS), diagnosed genetically or clinically. The remaining patients had unknown mutations leading to OCA. RESULTS: 47.6 % of patients of OCA of all types included had a color vision defect. Of these, 55% were female and 45% were male patients. 50% of patients with the HPS (all types) had a color vision deficit. 42.9% of patients with OCA of unknown type had color weakness. 57.1% had normal color vision. CONCLUSIONS: Results suggest that many patients with OCA and the HPS have a mild red-green color perception deficiency that is not a sex linked trait. The prevalence of color vision deficits in our study population increased with decreasing visual acuity.
Subject(s)
Color Perception , Color Vision Defects/etiology , Hermanski-Pudlak Syndrome/complications , Adolescent , Adult , Albinism, Oculocutaneous/classification , Albinism, Oculocutaneous/complications , Albinism, Oculocutaneous/physiopathology , Carrier Proteins/genetics , Child , Child, Preschool , Color Perception/genetics , Color Vision Defects/epidemiology , Color Vision Defects/genetics , Female , Genetic Heterogeneity , Genotype , Hermanski-Pudlak Syndrome/classification , Hermanski-Pudlak Syndrome/genetics , Hermanski-Pudlak Syndrome/physiopathology , Humans , Incidence , Intracellular Signaling Peptides and Proteins , Male , Membrane Proteins/genetics , Middle Aged , Phenotype , Prospective Studies , Visual AcuityABSTRACT
PURPOSE: To study color vision in patients with oculocutaneous albinism (OCA) METHODS: We evaluated color vision in 42 patients with OCA using the HRR color plates. Sixty seven percent of the patients had the Hermansky-Pudlak syndrome (HPS), diagnosed genetically or clinically. The remaining patients had unknown mutations leading to OCA. RESULTS: 47.6 of patients of OCA of all types included had a color vision defect. Of these, 55 were female and 45 were male patients. 50 of patients with the HPS (all types) had a color vision deficit. 42.9 of patients with OCA of unknown type had color weakness. 57.1 had normal color vision. CONCLUSIONS: Results suggest that many patients with OCA and the HPS have a mild red-green color perception deficiency that is not a sex linked trait. The prevalence of color vision deficits in our study population increased with decreasing visual acuity
Subject(s)
Male , Female , Child, Preschool , Child , Adolescent , Adult , Middle Aged , Humans , Color Perception , Color Vision Defects/etiology , Hermanski-Pudlak Syndrome/complications , Albinism, Oculocutaneous/classification , Albinism, Oculocutaneous/complications , Albinism, Oculocutaneous/physiopathology , Color Vision Defects/epidemiology , Color Vision Defects/genetics , Genetic Heterogeneity , Genotype , Incidence , Phenotype , Prospective Studies , Color Perception/genetics , Membrane Proteins/genetics , Carrier Proteins/genetics , Hermanski-Pudlak Syndrome/classification , Hermanski-Pudlak Syndrome/genetics , Hermanski-Pudlak Syndrome/physiopathology , Visual AcuityABSTRACT
Hermansky-Pudlak syndrome (HPS), consisting of oculocutaneous albinism and a bleeding diathesis due to the absence of platelet dense granules, displays extensive locus heterogeneity. HPS1 mutations cause HPS-1 disease, and ADTB3A mutations cause HPS-2 disease, which is known to involve abnormal intracellular vesicle formation. A third HPS-causing gene, HPS3, was recently identified on the basis of homozygosity mapping of a genetic isolate of HPS in central Puerto Rico. We now describe the clinical and molecular characteristics of eight patients with HPS-3 who are of non-Puerto Rican heritage. Five are Ashkenazi Jews; three of these are homozygous for a 1303+1G-->A splice-site mutation that causes skipping of exon 5, deleting an RsaI restriction site and decreasing the amounts of mRNA found on northern blotting. The other two are heterozygous for the 1303+1G-->A mutation and for either an 1831+2T-->G or a 2621-2A-->G splicing mutation. Of 235 anonymous Ashkenazi Jewish DNA samples, one was heterozygous for the 1303+1G-->A mutation. One seven-year-old boy of German/Swiss extraction was compound heterozygous for a 2729+1G-->C mutation, causing skipping of exon 14, and resulting in a C1329T missense (R396W), with decreased mRNA production. A 15-year-old Irish/English boy was heterozygous for an 89-bp insertion between exons 16 and 17 resulting from abnormal splicing; his fibroblast HPS3 mRNA is normal in amount but is increased in size. A 12-year-old girl of Puerto Rican and Italian background has the 3,904-bp founder deletion from central Puerto Rico on one allele. All eight patients have mild symptoms of HPS; two Jewish patients had received the diagnosis of ocular, rather than oculocutaneous, albinism. These findings expand the molecular diagnosis of HPS, provide a screening method for a mutation common among Jews, and suggest that other patients with mild hypopigmentation and decreased vision should be examined for HPS.