This Article  • References  • Full text PDF  • Reply to article  • Send to a friend  • Save in My Folder  • Save to citation manager  • Permissions  Citing Articles  • Citation map  • Citing articles on HighWire  • Contact me when this article is cited  Related Content  • Similar articles in this journal  Social Bookmarking   What's this?

An Oculocutaneous Macromelanosomal Disorder

Francis E. O'Donnell, Jr, MD; George W. Hambrick, Jr, MD; W. Richard Green, MD; W. Jackson Iliff, MD; David L. Stone, MA

Arch Ophthalmol. 1976;94(11):1883-1892.

Abstract
• Three unrelated kindreds with the Nettleship-Falls type of X-linked ocular albinism were studied. Postmortem examination of the eyes of an affected man revealed the presence of macromelanosomes in the pigment epithelia. Skin biopsy specimens of this patient, seven other affected male, and nine carrier female kindred members revealed the presence of Fontana-positive and dopa oxidase-positive macromelanosomes within the epidermis and dermis. Although clinically this disorder has been considered to be a form of albinism confined to the eyes, these findings indicate that an unusual disturbance in melanosome production characterized by macromelanosome formation affects the skin and the eyes. Histopathologic study of the skin is a useful adjunct in the diagnosis of X-linked ocular albinism, both in the affected and the carrier states.

Linkage studies confirmed the close association of the Xg blood group with this disorder.

Author Affiliations
From the Departments of Ophthalmology and Pathology, Eye Pathology Laboratory, Wilmer Institute (Drs O'Donnell, Green, Iliff and Mr Stone), and the Subdepartment of Dermatology, Department of Medicine (Dr Hambrick), Johns Hopkins Medical Institutions, Baltimore.

Footnotes
Accepted for publication April 2, 1976.

Read in part before the 34th annual meeting of the Wilmer Residents Association, Baltimore, April 19, 1975.

Reprint requests to Eye Pathology Laboratory, Johns Hopkins Hospital, 601 N Broadway, Baltimore, MD 21205 (Dr Green).

CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter     What's this?

THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES

The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells
Palmisano et al.
Hum Mol Genet 2008;17:3487-3501.
ABSTRACT | FULL TEXT  

Involvement of OA1, an Intracellular GPCR, and G{alpha}i3, Its Binding Protein, in Melanosomal Biogenesis and Optic Pathway Formation
Young et al.
IOVS 2008;49:3245-3252.
ABSTRACT | FULL TEXT  

Visual Insignificance of the Foveal Pit: Reassessment of Foveal Hypoplasia as Fovea Plana
Marmor et al.
Arch Ophthalmol 2008;126:907-913.
ABSTRACT | FULL TEXT  

An unconventional dileucine-based motif and a novel cytosolic motif are required for the lysosomal and melanosomal targeting of OA1
Piccirillo et al.
J. Cell Sci. 2006;119:2003-2014.
ABSTRACT | FULL TEXT  

The Ocular Albinism Type 1 (OA1) Gene Controls Melanosome Maturation and Size
Cortese et al.
IOVS 2005;46:4358-4364.
ABSTRACT | FULL TEXT  

Abnormal crossing of the optic fibres shown by evoked magnetic fields in patients with ocular albinism with a novel mutation in the OA1 gene
Lauronen et al.
Br J Ophthalmol 2005;89:820-824.
ABSTRACT | FULL TEXT  

The Microphthalmia Transcription Factor (Mitf) Controls Expression of the Ocular Albinism Type 1 Gene: Link between Melanin Synthesis and Melanosome Biogenesis
Vetrini et al.
Mol. Cell. Biol. 2004;24:6550-6559.
ABSTRACT | FULL TEXT  

Frequent Loss of Heterozygosity Targeting the Inactive X Chromosome in Melanoma
Indsto et al.
Clin. Cancer Res. 2003;9:6476-6482.
ABSTRACT | FULL TEXT  

Deletion in the OA1 gene in a family with congenital X linked nystagmus
Preising et al.
Br J Ophthalmol 2001;85:1098-1103.
ABSTRACT | FULL TEXT  

Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1
d'Addio et al.
Hum Mol Genet 2000;9:3011-3018.
ABSTRACT | FULL TEXT  

Expression Pattern of the Ocular Albinism Type 1 (Oa1) Gene in the Murine Retinal Pigment Epithelium
Surace et al.
IOVS 2000;41:4333-4337.
ABSTRACT | FULL TEXT  

Oa1 knock-out: new insights on the pathogenesis of ocular albinism type 1
Incerti et al.
Hum Mol Genet 2000;9:2781-2788.
ABSTRACT | FULL TEXT  

Cloning of the murine homolog of the ocular albinism type 1 (OA1) gene: sequence, genomic structure, and expression analysis in pigment cells.
Bassi et al.
Genome Res 1996;6:880-885.
ABSTRACT  

Treatment of Cafe au Lait Macules With Lasers: A Clinicopathologic Correlation
Grossman et al.
Arch Dermatol 1995;131:1416-1420.
ABSTRACT  

A{degrees}land Island Eye Disease (Forsius-Eriksson Syndrome) Associated With Contiguous Deletion Syndrome at Xp21: Similarity to Incomplete Congenital Stationary Night Blindness
Weleber et al.
Arch Ophthalmol 1989;107:1170-1179.
ABSTRACT  

Ocular Albinism
Lewen
Arch Ophthalmol 1988;106:120-121.
 

Fundal Findings in a Female Carrier of X-linked Ocular Albinism
Mansour et al.
Arch Ophthalmol 1987;105:750-751.
ABSTRACT  

Monochromatic Fundus Photography of Human Albinos
Abadi and Dickinson
Arch Ophthalmol 1983;101:1706-1711.
ABSTRACT  

Autosomal Dominant Foveal Hypoplasia and Presenile Cataracts: A New Syndrome
O'Donnell and Pappas
Arch Ophthalmol 1982;100:279-281.
ABSTRACT  

Visual system anomalies in human ocular albinos
Creel et al.
Science 1978;201:931-933.
ABSTRACT  

Autosomal Recessively Inherited Ocular Albinism: A New Form of Ocular Albinism Affecting Females as Severely as Males
O'Donnell et al.
Arch Ophthalmol 1978;96:1621-1625.
ABSTRACT  

X-linked Ocular Albinism in Blacks: Ocular Albinism Cum Pigmento
O'Donnell et al.
Arch Ophthalmol 1978;96:1189-1192.
ABSTRACT  

Human Albinism: Light and Electron Microscopy Study
Fulton et al.
Arch Ophthalmol 1978;96:305-310.
ABSTRACT