A 64-Year-Old Man With Ocular Albinism, Interstitial Lung Disease, and Clubbing.

First Report of Oculocutaneous Albinism Type I Among Baka Pygmies From Cameroon.

Disruption of the l-DOPA Receptor Gpr143/OA1-Gene in Mice Creates a Unique Mixed Psychosis-Like Phenotype.

Cutaneous Depigmentation in a Child With Ocular Albinism Type 1: Expanding the Clinical Phenotype.

Updated Analysis of Albinism in Japan: 290 Families With Novel Pathological Variants.

A novel HPS3 pathogenic nonsense variant associated with Hermansky-Pudlak syndrome type 3 and a platelet dysfunction.

Female Carrier of Ocular Albinism Linked to Gpr143 Gene.

A genome-wide association study for the red-eyed trait (ocular albinism) in an F2 population of guppy (Poecilia reticulata).

Pigmentation Pattern of Iris and Fundus in 75 Chinese Families With GPR143-Associated Ocular Albinism.

Histopathological Characteristics and Multi-Omics Analysis of Ocular Pigmentation Defects in Albino Percocypris pingi.

Clinical characteristics and prognostic factors of Hermansky-Pudlak syndrome with or without pulmonary fibrosis: a systematic review.

GPR143-Associated Ocular Albinism in a Hispanic Family and Review of the Literature.

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy.

X-Linked Ocular Albinism.

Striking Iris Transillumination with Visible Ciliary Processes in Ocular Albinism.

Ȧland Island eye disease in two patients harboring novel CACNA1F variants.

Primary Angle Closure in a 7-Year-Old Child: Evaluation and Findings With Conventional Ultrasound and Ultrasound Biomicroscope.

Amblyopia in a Young Child With an Atypical Response to Treatment: A Case Report.

Mud-splattered pattern of retinal pigmentation in carrier of ocular albinism type 1.

Choroidal Neovascularization in a Female Carrier of Ocular Albinism with a GPR143 Mutation: A Case Report.

L-DOPA Promotes Functional Proliferation Through GPR143, Specific L-DOPA Receptor of Astrocytes.

Masks of Albinism: Clinical Spectrum of Hermansky-Pudlak Syndrome.

Clinical and Genetic Characteristics of Patients with Peripheral Retinal Flecks in Koreans.

Ocular Albinism, Telecanthus, and Skin Depigmentation: A Phenotypic Conundrum.

The biochemistry of melanogenesis: an insight into the function and mechanism of melanogenesis-related proteins.

Opposite regulation by L-DOPA receptor GPR143 of the long and short forms of the dopamine D2 receptors.

l-DOPA receptor GPR143 inhibits neurite outgrowth via L-type calcium channels in PC12 cells.

Analysis of Lipoprotein Signaling in Iris Melanocytes.

Decreased CREB phosphorylation impairs embryonic retinal neurogenesis in the Oa1-/- mouse model of Ocular albinism.

Ocular Albinism with Unilateral Retinochoroidal Coloboma and Retinal Detachment.

Clinical and mutational characteristics of oculocutaneous albinism type 7.

Aland Island Eye Disease with Retinoschisis in the Clinical Spectrum of CACNA1F-Associated Retinopathy-A Case Report.

Case series: Fundus autofluorescence abnormalities in a family of ocular albinism carriers.

GPR143 mutations in an X-linked infantile nystagmus syndrome cohort in Southeast China.

Novel Variants of HPS6 Cause Suspected Ocular Albinism: A Report of 2 Cases and the Profile of HPS6 Variants.

The molecular landscape of oculocutaneous albinism in India and its therapeutic implications.

[Diagnosis of a case with Hermansky-Pudlak syndrome type 5 through high-throughput sequencing and a literature review].

Novel mutations of the X-linked genes associated with early-onset high myopia in five Chinese families.

Determining a Worldwide Prevalence of Oculocutaneous Albinism: A Systematic Review.

Tilted disc in eyes with fovea plana.

Smartphone for retinal imaging - Case series in resource-limited rural settings.

Comments on: Choroidal and retinal thickness variations in ocular albinism.

Low-vision intervention for oculocutaneous albinism in a Tertiary Eye Care Hospital in India.

Surgical treatment for proliferative diabetic retinopathy with ocular albinism.

A case of Hermansky-Pudlak with dyspnea.

Coupling between GPR143 and dopamine D2 receptor is required for selective potentiation of dopamine D2 receptor function by L-3,4-dihydroxyphenylalanine in the dorsal striatum.

Diagnostic Yield of Genetic Testing for Ocular and Oculocutaneous Albinism in a Diverse United States Pediatric Population.

Mutation of GPR143 Associated With Ocular Albinism Type 1, Intellectual Disability, and Schizophrenia: The Complex Biological and Social Interactions Between Genetic Syndromes and Mental Illness.

[A case of ocular albinism with an abnormal visual evoked potential].

Ocular findings and a comparative study of hair, skin and iris color in Chinese patients with albinism.

Macular Findings in Carriers of Ocular Albinism With a Novel GPR143 Mutation.

Choroidal and retinal thickness variations in ocular albinism.

Consanguinity and ocular disorders in India: Electronic medical records driven big data analytics.

The retinal pigmentation pathway in human albinism: Not so black and white.

Axial Length Distributions in Patients With Genetically Confirmed Inherited Retinal Diseases.

Two novel CACNA1F gene mutations cause two different phenotypes: Aland Eye Disease and incomplete Congenital Stationary Night Blindness.

CRISPR-AsCas12a Efficiently Corrects a GPR143 Intronic Mutation in Induced Pluripotent Stem Cells from an Ocular Albinism Patient.

Ophthalmological Manifestations of Oculocutaneous and Ocular Albinism: Current Perspectives.

Refractive development in individuals with ocular and oculocutaneous albinism.

The Many Faces of G Protein-Coupled Receptor 143, an Atypical Intracellular Receptor.

L-DOPA-Induced Neurogenesis in the Hippocampus Is Mediated Through GPR143, a Distinct Mechanism of Dopamine.

Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study.

New insights into the pathogenesis of Hermansky-Pudlak syndrome.

Hermansky-Pudlak Syndrome: Identification of Novel Variants in the Genes HPS3, HPS5, and DTNBP1 (HPS-7).

Long-term vision outcomes for patients with albinism and diabetic retinopathy.

The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences.

A new gene mutation in a family with idiopathic infantile nystagmus.

GPR143 genotypic and ocular phenotypic characterisation in a Chinese cohort with ocular albinism.

Neurodevelopmental Profile in Children Affected by Ocular Albinism.

Genetics of non-syndromic and syndromic oculocutaneous albinism in human and mouse.

Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism.

Identification of a novel GPR143 mutation in a large Chinese family with isolated foveal hypoplasia.

Genotype-phenotype associations in Danish patients with ocular and oculocutaneous albinism.

Clinical utility gene card for oculocutaneous (OCA) and ocular albinism (OA)-an update.

Novel Biallelic Variants and Phenotypic Features in Patients with SLC38A8-Related Foveal Hypoplasia.

[Nystagmus secondary to albinism with ocular involvement in a female: A diagnostic challenge].

Visual Impairment and Blindness in Saudi Arabia's School for the Blind: A Cross-Sectional Study.

Retinal Vasoproliferative Tumor in Ocular Albinism.

The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies.

Ocular findings of albinism in DYRK1A-related intellectual disability syndrome.

Pseudo-Gaze Deviation Resulting From Positive Angle Kappa and Esotropia.

SLC38A8 mutations result in arrested retinal development with loss of cone photoreceptor specialization.

Genetic variants and mutational spectrum of Chinese Hermansky-Pudlak syndrome patients.

Comprehensive Geno- and Phenotyping in a Complex Pedigree Including Four Different Inherited Retinal Dystrophies.

X-linked ocular albinism: mapping and cloning the gene.

[Analysis of P gene variations among fourteen patients with oculocutaneous albinism type II].

A novel GPR143 mutation in a Chinese family with X‑linked ocular albinism type 1.

Distribution of macular ganglion cell layer thickness in foveal hypoplasia: A new diagnostic criterion for ocular albinism.

Clinical and genetic variability in children with partial albinism.

Recovery of stereopsis after strabismus surgery in X-linked ocular albinism.

l-DOPA and Its Receptor GPR143: Implications for Pathogenesis and Therapy in Parkinson's Disease.

Overexpression of the gene product of ocular albinism 1 (GPR143/OA1) but not its mutant forms inhibits neurite outgrowth in PC12 cells.

Evaluation of the iris thickness changes for the Chinese families with GPR143 gene mutations.

Ocular Albinism Type 1 Regulates Deltamethrin Tolerance in Lymantria dispar and Drosophila melanogaster.

Successful treatment of aggressive posterior retinopathy of prematurity with diode laser in ocular albinism: A case report.

Ocular albinism with mutation in GPR143: Findings in wide-field autofluorescence and optical coherence tomography.

Clinical and molecular findings of FRMD7 related congenital nystagmus as adifferential diagnosis of ocular albinism.

The BLOC-3 subunit HPS4 is required for activation of Rab32/38 GTPases in melanogenesis, but its Rab9 activity is dispensable for melanogenesis.

Ocular albinism with bilateral ocular coloboma - A rare association.

A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1.

[Advances in research of synergistic divergence].

Immunoreactivity of a G protein-coupled l-DOPA receptor GPR143, in Lewy bodies.

Identification of a novel GPR143 mutation in X-linked ocular albinism with marked intrafamilial phenotypic variability.

Generation of a human Ocular Albinism type 1 iPSC line, SEIi001-A, with a mutation in GPR143.

Instability of BLOC-2 and BLOC-3 in Chinese patients with Hermansky-Pudlak syndrome.

Ocular albinism with infertility and late-onset sensorineural hearing loss.

Mutations in GPR143/OA1 and ABCA4 Inform Interpretations of Short-Wavelength and Near-Infrared Fundus Autofluorescence.

Pigmentation and vision: Is GPR143 in control?

Cutaneous Cancers in Nigerian Albinos: A Review of 22 Cases.

Failed Pneumatic Retinopexy for Rhegmatogenous Retinal Detachment Repair in Ocular Albinism: Clues to the Role of Melanin in Retinal Pigment Epithelium Pump Function.

[Oculocutaneous and ocular albinism].

Lessons of a day hospital: Comprehensive assessment of patients with albinism in a European setting.

The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells.

The chick eye in vision research: An excellent model for the study of ocular disease.

Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B).

Identification of Novel G Protein-Coupled Receptor 143 Ligands as Pharmacologic Tools for Investigating X-Linked Ocular Albinism.

[Identification of a novel GPR143 mutation in a Chinese family affected with X-linked ocular albinism].

MULTIMODAL IMAGING OF MOSAIC RETINOPATHY IN CARRIERS OF HEREDITARY X-LINKED RECESSIVE DISEASES.

GPR143 mutations in Chinese patients with ocular albinism type 1.

Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS.

Retinal imaging with smartphone.

DETAILED RETINAL IMAGING IN CARRIERS OF OCULAR ALBINISM.

[Preimplantation genetic diagnosis and monogenic inherited eye diseases].

Molecular genetic and clinical evaluation of three Chinese families with X-linked ocular albinism.

Progressive retinal degeneration in a girl with Knobloch syndrome who presented with signs of ocular albinism.

Primary leptomeningeal melanocytic tumour with a plaque-like blue nevus in a patient with ocular albinism.

Clinical evaluation and molecular screening of a large consecutive series of albino patients.

Interaction between G Protein-Coupled Receptor 143 and Tyrosinase: Implications for Understanding Ocular Albinism Type 1.

Ocular Albinism Type 1 Regulates Melanogenesis in Mouse Melanocytes.

FOVEAL HYPOPLASIA: DIAGNOSIS USING OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY.

GNAI3: Another Candidate Gene to Screen in Persons with Ocular Albinism.

A Case of a Newborn with Agenesis of the Corpus Callosum Complicated with Ocular Albinism.

Simultaneous Expression of ABCA4 and GPR143 Mutations: A Complex Phenotypic Manifestation.

Generation of Hermansky Pudlak syndrome type 2 (HPS2) induced pluripotent stem cells (iPSCs).

Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism.

The ophthalmic presentation of Hermansky-Pudlak syndrome 6.

Homozygosity mapping in albinism patients using a novel panel of 13 STR markers inside the nonsyndromic OCA genes: introducing 5 novel mutations.

Role of ocular albinism type 1 (OA1) GPCR in Asian gypsy moth development and transcriptional expression of heat-shock protein genes.

Brown's syndrome with ocular albinism: Case report of a rare presentation and literature review.

A novel mutation, c.494C>A (p.Ala165Asp), in the GPR143 gene causes a mild phenotype in a Chinese X-linked ocular albinism patient.

Dopamine signaling regulates the projection patterns in the mouse chiasm.

Optic neuropathy in late-onset neurodegenerative Chédiak-Higashi syndrome.

[Suspected pathogenic mutation identified in two cases with oculocutaneous albinism].

Sequence analysis of tyrosinase gene in ocular and oculocutaneous albinism patients: introducing three novel mutations.

GPR143 Gene Mutations in Five Chinese Families with X-linked Congenital Nystagmus.

Deep intronic GPR143 mutation in a Japanese family with ocular albinism.

Nystagmus in laurence-moon-biedl syndrome.

Regulation of melanosome number, shape and movement in the zebrafish retinal pigment epithelium by OA1 and PMEL.

Expression of ocular albinism 1 (OA1), 3, 4- dihydroxy- L-phenylalanine (DOPA) receptor, in both neuronal and non-neuronal organs.