Mitochondrial variants may influence the phenotypic manifestation of Leber's hereditary optic neuropathy-associated ND4 G11778A mutation.

We report here the characterization of a five-generation Han Chinese family with Leber's hereditary optic neuropathy (LHON). Strikingly, this Chinese family displayed high penetrance and expressivity of visual loss. The average age-of-onset of vision loss was 18 years in this family.

[Submacular fluid after surgery for rhegmatogenous retinal detachment].

Objective: To evaluate the accumulation of submacular fluid after surgery for retinal detachment.

Methods: It was a case control study. Sixty seven eyes of sixty six patients with rhegmatogenous retinal detachment which had undergone par plana vitrectomy (PPV) or buckle surgery for retinal detachment were recruited.

[Studies on chemical constituents from herbs of Taraxacum mongolicum].

Objective: To investigate the chemical constituents of the herbs of Taraxacum mongolicum.

Method: The chemical constituents were isolated by various column chromatographic methods and their structures elucidated mainly by NMR and MS evidences.

Result: Forty-four components were obtained and identified were as artemetin (1), quercetin (2), quercetin-3', 4', 7-trime-thyl ether (3), luteolin (4), luteolin-7-O-beta-D-glucopyranoside (5), luteolin-7-O-beta-D-galactopyranoside (6), genkwanin (7), isoetin (8), hesperetin (9), genkwanin-4'-O-beta-D-lutinoside (10), hesperidin (11), quercetin-7-O-[beta-D-glucopyranosyl (1-->6) -beta-D-glucopyranoside (12), quercetin-3, 7-O-beta-D-diglucopyranoside (13), isoetin-7-O-beta-D-glucopyranosyl- 2'-O-alpha-L-arabinopyranoside (14), isoetin-7-O-beta-D-glucopyranosyl-2'-O-alpha-D-glucopyranoside (15), isoetin-7- O-beta-D-glucopyranosyl-2'-O-beta-D-xyloypyranoside (16), caffeic acid (17), furulic acid (18), 3-O-caffeoylquinic acid (19), 3, 5-di-O-caffeoylquinic acid (20), 3, 4-di-O-caffeoylquinic acid (21), 4, 5-di-O-caffeoylquinic acid (22), 1-hydroxymethyl-5-hydroxy-phenyl-2-O-beta-D-glucopyranoside (23), p-hydroxybenzoic acid (24), p-coumaric acid (25), 3, 5-dihydroxylbenzoic acid (26), gallic acid (27), gallicin (28), syringic acid (29), 3, 4-dihydroxybenzoic acid (30), caffeic acid ethyl ester (31), esculetin (32), rufescidride (33), mongolicumin A [6, 9, 10-trihydroxy-benzoxanthene-1, 2-dicarboxylic acid] (34), mongolicumin B [1 l-hydroxy-2-oxo-guaia-1 (10), 3, 5-trien-8, 12-lactone] (35), isodonsesquitin A (36), taraxacin (37), sesquiterpene ketolactone (38), taraxasteryl acetate (39), phi-taraxasteryl acetate (40) and lupenol acetate (41), palmitic acid (42), beta-sitosterol (43), and stigmasterol (44).

The development of the refractive status and ocular growth in C57BL/6 mice.

Purpose: To investigate refraction, corneal curvature, axial components, and the correlations between the refraction and ocular growth during the emmetropization in the C57BL/6 mouse.

Methods: Ten groups of 10 mice underwent ocular measurements at 22 to 102 days after birth. Refraction was measured by photoretinoscopy and corneal radius of curvature (CRC) was measured by keratometry.

GPR48 regulates epithelial cell proliferation and migration by activating EGFR during eyelid development.

Purpose: Eyelid development is a dynamic process involving cell proliferation, differentiation, and migration regulated by a number of growth factors and cytokines. Mice deficient in the orphan G protein-coupled receptor 48 (GPR48) showed an eye open at birth (EOB) phenotype. In this study, the authors attempted to clarify the role of GPR48 in eyelid development and the molecular mechanisms leading to the EOB phenotype.

CSCDB: the cAMP and cGMP signaling components database.

Adenylate cyclases, guanylate cyclases, cyclic nucleotide phosphodiesterases, and cyclic nucleotide-binding proteins constitute the core of cAMP and cGMP signaling components. Using a combination of BLAST and profile search methods, we found that cyclic nucleotide-binding proteins exhibited diverse domain architectures. In addition to the domain architectures involved in the characterized functional groups, a cyclic nucleotide-binding domain was also fused to various domains involved in pyridine nucleotide-disulfide oxidoreductase, acetyltransferase, thioredoxin reductase, glutaminase, rhodanese, ferredoxin, and diguanylate cyclase, implying the versatile functions of cyclic nucleotide-binding proteins.

On the compensation of horizontal coma aberrations in young human eyes.

The nature of the compensation of horizontal coma (Z(3)(1)) between optical elements of the human eye has been studied and the compensative mechanism has been attributed to a passive process linked to angle kappa of the eye. We measured the horizontal coma in the anterior cornea, the whole eye and the internal optics for 221 young subjects. Thirty-three eyes with minimum angle lambda and 53 eyes with relatively large angle lambda were selected from these eyes to test the hypothesis that horizontal coma compensation is linked to angle kappa.

Deletion of G protein-coupled receptor 48 leads to ocular anterior segment dysgenesis (ASD) through down-regulation of Pitx2.

The development of the anterior segment of the mammalian eye is critical for normal ocular function, whereas abnormal development can cause glaucoma, a leading cause of blindness in the world. We report that orphan G protein-coupled receptor 48 (Gpr48/LGR4) plays an important role in the development of the anterior segment structure. Disruption of Gpr48 causes a wide spectrum of anterior segment dysgenesis (ASD), including microphthalmia, iris hypoplasia, irdiocorneal angle malformation, cornea dysgenesis, and cataract.

Expression of toll-like receptors in the Fusarium solani infected cornea.

Purpose: To investigate the expression of toll-like receptors (TLRs) in the human cornea with Fusarium solani (F. solani) keratitis.

Methods: Five human corneas with F.

A murine model of dry eye induced by an intelligently controlled environmental system.

Purpose: To establish a novel murine model of dry eye using an intelligently controlled environmental system (ICES).

Methods: Thirty BALB/c mice aged 4 to 6 weeks were housed in the ICES in which the relative humidity, airflow, and temperature were maintained at 15.3% +/- 3% (mean +/- SD), 2.

Biometric measurement of the mouse eye using optical coherence tomography with focal plane advancement.

Purpose: To demonstrate that high-resolution biometry is possible in mouse eyes in vivo, using real-time OCT with focal plane advancement by a stepper motor.

Methods: OCT images of eyes were taken from nine 29-day-old C57BL/6 mice(18 eyes) on two consecutive days. A custom-built real-time OCT instrument with a stepper motor was used to advance the focal plane from the corneal apex to the retina along the ocular axis.

[Expression of dopamine receptor D2 and adenosine receptor A2A in human retinal pigment epithelium].

Objective: The aim of this study was to identify the presence of dopamine receptor D2 and adenosine receptor A2A in human retinal pigment epithelium (RPE) in order to determine whether the RPE is a potential site of action for these two receptors.

Methods: RPE Cells were isolated and cultured. Reverse transcription-polymerase chain reaction (RT-PCR) and immunocytochemistry were performed to detect the expression of D2 and A2A receptors in the RPE.

Diurnal variation of upper and lower tear menisci.

Purpose: To determine diurnal variation of tear menisci around upper and lower eyelids in normal subjects.

Design: Prospective laboratory investigation.

Methods: Twenty young healthy Chinese subjects (10 women and 10 men; mean age, 21.

[The influence of mitochondrial haplogroup on Leber's hereditary optic neuropathy].

Leber's hereditary optic neuropathy (LHON) is a maternally inherited disorder leading to rapid, painless, bilateral and usually permanent central vision loss in young adults, males are preferentially affected. The maternal transmission of this visual dysfunction in LHON families suggested that mutations in the mitochondrial DNA (mtDNA) are the molecular bases of the disorder. The ND1 G3460A, ND4 G11778A and ND6 T14484C mutations in the genes encoding the subunits of respiratory chain complex I, account for more than 50% of LHON families worldwide.

Involvement of PI3K/Akt signaling pathway in hepatocyte growth factor-induced migration of uveal melanoma cells.

Purpose: Uveal melanoma is the most common primary intraocular malignancy in adult humans. Unlike cutaneous melanoma, uveal melanoma disseminates preferentially to the liver through the hematogenous system. To date, the mechanism underlying this metastatic homing is largely unknown.

A comparative gene expression profile of the whole eye from human, mouse, and guinea pig.

Purpose: To characterize and compare gene expression patterns of the whole eyeball among human, mouse, and guinea pig based on expressed sequence tags (ESTs).

Methods: Approximately 10,000 clones were sequenced from the 5'-end for each cDNA library made from mRNAs isolated from whole eyeballs of human, mouse, and guinea pig. ESTs were assembled and analyzed based on standard methods.

Expression of melanin-related genes in cultured adult human retinal pigment epithelium and uveal melanoma cells.

Purpose: Controversy exists over melanogenesis of adult human RPE cells in vitro. This study investigated melanin content and production and expression of tyrosinase (TYR), tyrosinase-related-protein-1 (TRP1), tyrosinase-related-protein-2 (TRP2), and P gene in cultured human RPE cells and uveal melanoma cells.

Methods: RPE cells were isolated and cultured from three adult donor eyes.

[Expression of retinoid acid receptors in human scleral fibroblasts and regulation of growth of fibroblasts by retinoic acid].

Objective: The aim of this study was to identify the presence of retinoid acid receptors in cultured human scleral fibroblasts and the effect of retinoic acid (RA) on the regulation of cell growth.

Methods: Human scleral fibroblasts from three donors were isolated and cultured in Dulbecco Modified Ealge's Medium. Cells from the third or fifth generation were used in the present study.

[A comparison of Chinese reading parameters among rapid serial visual presentation, full screen and printed displays].

Objective: This study investigated reading speed of Chinese in rapid serial visual presentation (RSVP), full screen and printed display among young adults with normal vision. The critical font size and critical acuity reserve in RSVP were also evaluated.

Methods: Thirty university students with a visual acuity of at least 20/20 in both eyes (uncorrected or corrected) were recruited in this study.

Toll-like receptors (TLRs) expression and function in response to inactivate hyphae of Fusarium solani in immortalized human corneal epithelial cells.

Purpose: To evaluate the role of toll-like receptors (TLRs) in host responses to Fusarium solani by the use of cultured immortalized human corneal epithelial cells (HCEC) and to determine whether inactive hyphal fragments can induce an antifungal response in these cells.

Methods: Cultured HCEC cells were stimulated with inactive hyphal fragments from Fusarium solani, and the effect on expression of TLRs was determined by real-time polymerase chain reaction (PCR), immunofluorescence, and western blot analysis. Cells were also cocultured with hyphal fragment and hydrocortisone to determine whether hydrocortisone modulates the transcription of TLRs.

[Leber's hereditary optic neuropathy is associated with the mitochondrial G11696A mutation in two Chinese families].

Objective: To report the clinical, genetic, and molecular characterization of two Chinese families with Leber's hereditary optic neuropathy (LHON).

Methods: Ophthalmological examinations showed that only probands in two families exhibited visual loss at the age of 10 and 17 years respectively. The entire mitochondrial genome of two probands was PCR amplified in 24 overlapping fragments using sets of oligonucleotide primers.

[Myopic proptosis and the associated changes in axial components of the eye].

Objective: To investigate the correlation between proptosis and changes of axial components in myopic eyes.

Methods: One hundred and eighty-nine myopic and emmetropic eyes were included. There are one hundred and eighty-three right eyes and six left eyes.

Expression of toll-like receptors in the healthy and herpes simplex virus-infected cornea.

Purpose: To study the expression of toll-like receptors (TLRs) in healthy corneas and corneas with active or nonactive herpetic stromal keratitis (HSK).

Methods: Eight corneas with HSK (including 5 active and 3 nonactive cases) and 8 healthy corneas were evaluated for TLR1-10 mRNA by reverse transcription-polymerase chain reaction (RT-PCR) and relative real-time PCR. The proteins of TLR2, 9 in 3 different groups, were also compared by immunofluorescence staining.

Wavefront aberration and its association with intraocular pressure and central corneal thickness in myopic eyes.

Purpose: To investigate the association between intraocular pressure (IOP), central corneal thickness (CCT), or both and wavefront aberrations in the anterior cornea and the whole eye in myopia.

Setting: Wenzhou Medical College, Wenzhou, Zhejiang, China.

Methods: Seventy myopic subjects were tested with a Humphrey corneal topographer for wavefront aberrations in the anterior corneal surface and with a wavefront aberration-supported cornea ablation wavefront analyzer (Complete Ophthalmic Analysis System, Carl Zeiss Meditec) for wavefront aberrations in the whole eye.