OBJECTIVETo identify the mutations of the tyrosinase gene (TYR) and P gene in patients with oculocutaneous albinism (OCA).

METHODSPolymerase chain reaction (PCR) and denaturing high performance liquid chromatography (DHPLC) were applied to detect the mutations in all exons of TYR gene and P gene. Then DNA sequencing and restriction endonuclease analysis were used to confirm the mutations detected by DHPLC. Novel mutations were screened in 100 unrelated persons with normal phenotypes to exclude the possibility of polymorphism.

RESULTSTwo mutations were detected in the P gene of the three patients and none in TYR gene. Heterozygous mutation of T450M in exon 13 of the P gene was detected in patient 1. Patient 2 had a heterozygous mutation of T450M in exon 13 and a heterozygous mutation of G775R in exon 23 of the P gene. Patient 3 had a heterozygous mutation of G775R as well. Restriction endonuclease analysis of the P gene exon 13 showed that the Oli I site had partly disappeared resulting from the heterozygous mutation T450M in patient 1 and patient 2, but not in 100 unrelated individuals. The heterozygous mutation T450M is a novel mutation.

CONCLUSIONGene diagnosis of OCA can be carried out effectively by combining PCR, DHPLC, DNA sequencing and restriction endonuclease analysis.

Albinism, Oculocutaneous ; genetics ; Base Sequence ; Catechol Oxidase ; genetics ; Child, Preschool ; DNA Mutational Analysis ; Exons ; genetics ; Female ; Hermanski-Pudlak Syndrome ; genetics ; Humans ; Monophenol Monooxygenase ; genetics ; Mutation ; Young Adult

PURPOSE: Leber's hereditary optic neuropathy (LHON) is caused by point mutations in mitochondrial DNA. The authors report a case of a middle-aged man with genetically confirmed LHON, combined with bilateral normal tension glaucoma (NTG). CASE SUMMARY: A 48-year-old man presented with complaints of decreased visual acuity in his left eye. His corrected visual acuity was 20/16 in the right eye and 20/63 in the left eye. The fundus photographs revealed a bilateral, superotemporal and inferotemporal retinal nerve fiber layer defect, corresponding to his visual field defect. The patient was diagnosed with bilateral NTG. After 2 months, the patient's corrected visual acuity in the left eye worsened to counting fingers and a central visual field defect was noticed in the Humphrey visual field test in the left eye. At 4 months after the initial visit, his corrected visual acuity in the right eye became 20/100, and the Goldmann visual field test demonstrated cecocentral scotoma. The fundus photographs showed a papillomacular bundle defect in his left eye. At 7 months after the initial visit, his visual acuity was hand movement in the right eye and a finger count in the left eye. A series of LHON gene mutation tests revealed a 11778 mitochondrial gene mutation, and the patient was diagnosed with LHON. CONCLUSIONS: Proper diagnosis of LHON might be disturbed by atypical manifestation of other optic nerve diseases, such as glaucoma. Therefore, suspecting LHON and checking for gene mutations as part of the work-up in patients with bilateral optic neuropathy is critical.
DNA, Mitochondrial ; Eye ; Fingers ; Genes, Mitochondrial ; Glaucoma ; Hand ; Humans ; Low Tension Glaucoma ; Middle Aged ; Nerve Fibers ; Optic Atrophy, Hereditary, Leber ; Optic Nerve Diseases ; Point Mutation ; Retinaldehyde ; Scotoma ; Visual Acuity ; Visual Field Tests ; Visual Fields

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

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*

PURPOSE: To report the first case of lattice corneal dystrophy, gelsolin type in Korea. CASE SUMMARY: A 61-year-old man visited our clinic with severe dry eye symptom in both eyes. Clinical examination revealed in both eyes a visual acuity of 0.7 without correction and intraocular pressure of 18 mm Hg. On slit-lamp examination, both corneas had scattered lattice lines at various depths within the stroma with punctate epithelial erosions. The patient had characteristic features of Meretoja syndrome, including cranial neuropathy characterized by dermatochalasis and facial weakness, and was positive for the gelsolin mutation according to DNA analysis. This is the first description of a patient with lattice corneal dystrophy, gelsolin type in Korea. CONCLUSIONS: This is the first description of a patient with lattice corneal dystrophy, gelsolin type in Korea and demonstrates the importance of recognizing the systemic and ophthalmic features for appropriate management of the condition.
Amyloidosis ; Cornea ; Corneal Dystrophies, Hereditary ; Cranial Nerve Diseases ; DNA ; Eye ; Gelsolin ; Humans ; Intraocular Pressure ; Korea ; Visual Acuity

No abstract available.
Eye Diseases, Hereditary ; Humans ; Lacrimal Apparatus Diseases

No abstract available.
Eye Diseases, Hereditary ; Humans ; Lacrimal Apparatus Diseases

Mycosis fungoides presenting with hypopigmented lesions is an uncommon variant, which is usually described among dark-skinned patients. We report a case of hypopigmented mycosis fungoides in an eight-year-old girl who has responded favorably to narrowband-ultraviolet B therapy. The disease mimics several benign inflammatory skin conditions, hence, a high clinical suspicion is warranted in patients presenting with widespread hypopigmentation.

Human ; Female ; Child ; Albinism, Oculocutaneous ; Hypopigmentation ; Mycosis Fungoides ; Skin ; Lymphoma

Oculocutaneous Albinism (OCA) is a heterogenous autosomal recessive disorder characterized by defective melanin biosynthesis. Physical findings including white scalp hair and depigmented skin of whole body in newborn infants are important clinical features of OCA 1. We report a newborn case of OCA 1 with two different TYR mutations, and gene defects of the baby revealed to be originated from both parents carriers of OCA.
Albinism, Oculocutaneous* ; Hair ; Humans ; Infant, Newborn* ; Melanins ; Parents ; Scalp ; Skin

OBJECTIVE: To analyze gene variants in a Chinese pedigree with oculocutaneous albinism (OCA). METHODS: Gene sequencing of the proband and his parents was performed using chip capture high-throughput sequencing and Sanger sequencing techniques, and PolyPhen-2, SIFT, MutationTaster, and FATHMM software were used to predict the function of new variants. At the same time,the pedigree and variant genes of 4 albinism patients from this pedigree were analyzed. RESULTS: Sequencing results showed that the proband's TYR gene (NM_000372) has c.230G>A (p.Arg77Gln) and c.120_121insG (p.Asp42GlyfsTer35) compound heterozygous variants. The proband's father carries c.230G>A heterozygous variant, and the mother carries c.120_121insG heterozygous variant, indicating that the proband's two variants are from his father and mother. The former is a known missense variant, which can cause abnormal or loss of the original function of the protein polypeptide chain. The latter c.120_121insG(p.Asp42GlyfsTer35) is an unreported frameshift variant of the TYR gene subregion (EX1; CDS1). PolyPhen-2, SIFT, MutationTaster and FATHMM predictions are all prompted as "harmful variants". This variant caused the amino acid encoded protein to terminate prematurely, producing a truncated protein, which eventually formed a 76-amino acid short-type TYR protein instead of the 529-amino acid wild-type TYR protein. Through the pedigree analysis, the four patients in the pedigree are all of the same type of compound heterozygous variants, and the disease-causing genes are all from the patient's parents. They belong to a special form of consanguineous marriage within 5 generations. CONCLUSION The compound heterozygous variants of c.230G>A (p.Arg77Gln) and c.120_121insG (p.Asp42GlyfsTer35) of the TYR gene may underlie the disease in this pedigree. The gene sequencing results enrich the variant spectrum of the TYR gene, and has facilitated molecular diagnosis for the patient.
Albinism, Oculocutaneous/genetics* ; Consanguinity ; Heterozygote ; Humans ; Mutation ; Pedigree