An eight-year-old boy with autism developed gradual onset of vision loss and nyctalopia. Dietary history revealed a diet of only French fries and potato chips for the past four years. As a result, serum vitamin A was severely below the normal level. Ophthalmologic examination revealed a normal anterior segment with bilateral optic atrophy. Vitamin A supplementation was given to restore to normal level; however, the visual impairment was irreversible. Vitamin A deficiency is common in developing countries; however, to the best of our knowledge, there are no other reported cases of permanent visual loss secondary to vitamin A deficiency in Malaysia.

To report a rare case of Birt-Hogg-Dubé Syndrome (BHD) with progressive chorioretinopathy.
Case report.
A 55-year-old woman presented with longstanding nyctalopia attributed to a congenital retinal dystrophy, but no prior genetic testing. Her posterior pole examination demonstrated retinal pigment epithelium (RPE) mottling with extensive macular drusen and paracentral chorioretinal atrophy, consistent with a fleck retinopathy. Her past medical history was remarkable for nephrectomy for unilateral renal malignancy, parotid tumors and thyroid nodules. Dark adaptation time was prolonged, and electroretinography (ERG) revealed abnormal waveforms with depressed amplitudes. Genetic testing confirmed a deletion mutation in the folliculin (FLCN) gene and was negative for other relevant mutations, including EFEMP1 responsible for autosomal dominant macular and peripapillary drusen in Doyne honeycomb retinal dystrophy and TIMP3 responsible for Sorsby Fundus Dystrophy.
BHD is a rare autosomal-dominant disorder with multi-systemic clinical manifestations caused by a mutation in the FLCN gene. Affected individuals are prone to renal and pulmonary cysts, renal cancer, and fibrofolliculomas. Reports on ocular manifestations of BHD include eyelid fibrofolliculomas, flecked chorioretinopathy, choroidal melanoma, choroidal melanoma with sector melanocytosis, and retinal pigment epithelial micro-detachments. In this case of BHD, we note a fleck retinopathy with bilateral chorioretinal atrophy, displaying a phenotype of extensive chorioretinopathy associated with impaired dark adaptation and ERG abnormalities.
BHD: Birt-Hogg-Dubé syndrome; FLCN: Folliculin. RPE: retinal pigment epithelium; OD: Oculus dexter (right eye); OS: Oculus sinister (left eye). OU: Oculus uterque (both eyes); ERG: electroretinogram; mfERG: multifocal electroretinography. ffERG: full-field electroretinography; FAF: fundus autofluorescence; OCT: optical coherence tomography; FA: fluorescein angiography; DA: dark-adapted; LA: light-adapted; mTOR: mammalian target of rapamycin; EFEMP1: epithelial growth factor-containing fibulin-like extracellular matrix protein 1; VPS13B: Vacuolar Protein Sorting 13 Homolog B; AGBL5: AATP/GTP-Binding Protein Like 5; ALMS1: Alstrom Syndrome 1; COL1BA1: Collagen Type I Beta, Alpha Chain 1; PDE6A: Rod Phosphodiesterase 6-alpha; USH2A: Usherin 2a; VCAN: Versican; RP: Retinitis pigmentosa; AR: Autosomal recessive.

Oguchi\'s disease is a rare form of congenital stationary night blindness, associated with light-dependent golden fundus discoloration. In this report, we describe two cases of Oguchi\'s disease, both of which had two characteristic features: congenital stationary night blindness and fundoscopic manifestation of the Mizuo-Nakamura phenomenon. In both patients, fundus examination revealed a metallic sheen throughout the retina, which disappeared after 2.5 hours of dark adaptation, suggestive of the Mizuo-Nakamura phenomenon. The characteristic electroretinogram (ERG) changes (i.e., un-recordable rod response and reductions of maximal response, oscillatory potentials, and flicker response) in these patients confirmed the clinical diagnosis of Oguchi\'s disease. Furthermore, we discuss the results of our literature search for evidence concerning the diagnosis and pathogenesis of this rare disease. Further studies regarding the genes involved in phototransduction and light adaptation are needed to determine the pathogenesis of this rare disease.

Vitamin A deficiency is highly prevalent and remains the major cause of nutritional blindness in children in low-and middle-income countries, despite supplementation programmes. Xeropthalmia (severe drying and thickening of the conjunctiva) is caused by vitamin A deficiency and leads to irreversible blindness. Vitamin A supplementation programmes effectively reduce vitamin A deficiency but many rural children are not reached. Home food production may help prevent rural children\'s vitamin A deficiency. We aimed to systematically review trials assessing effects of home food production (also called homestead food production and agricultural interventions) on xeropthalmia, nightblindness, stunting, wasting, underweight and mortality (primary outcomes). We searched Medline, Embase, Scopus, Cochrane CENTRAL and trials registers to February 2019. Inclusion of studies, data extraction and risk of bias were assessed independently in duplicate. Random-effects meta-analysis, sensitivity analyses, subgrouping and GRADE were used. We included 16 trials randomizing 2498 children, none reported xerophthalmia, night-blindness or mortality. Home food production may slightly reduce stunting (mean difference (MD) 0.13 (z-score), 95% CI 0.01 to 0.24), wasting (MD 0.05 (z-score), 95% CI -0.04 to 0.14) and underweight (MD 0.07 (z-score), 95% CI -0.01 to 0.15) in young children (all GRADE low-consistency evidence), and increase dietary diversity (standardized mean difference (SMD) 0.24, 95% CI 0.15 to 0.34). Home food production may usefully complement vitamin A supplementation for rural children. Large, long-duration trials with good randomization, allocation concealment and correct adjustment for clustering are needed to assess effectiveness of home food production on nutritional blindness in young children.

Vitamin A is a crucial micronutrient for pregnant women and their fetuses. In addition to being essential for morphological and functional development and for ocular integrity, vitamin A exerts systemic effects on several fetal organs and on the fetal skeleton. Vitamin A requirements during pregnancy are therefore greater. Vitamin A deficiency (VAD) remains the leading cause of preventable blindness in the world. VAD in pregnant women is a public health issue in most developing countries. In contrast, in some developed countries, excessive vitamin A intake during pregnancy can be a concern since, when in excess, this micronutrient may exert teratogenic effects in the first 60 days following conception. Routine prenatal vitamin A supplementation for the prevention of maternal and infant morbidity and mortality is not recommended; however, in regions where VAD is a public health issue, vitamin A supplementation is recommended to prevent night blindness. Given the importance of this topic and the lack of a complete, up-to-date review on vitamin A and pregnancy, an extensive review of the literature was conducted to identify conflicting or incomplete data on the topic as well as any gaps in existing data.

Fundus albipunctatus (FA) is a rare, congenital form of night blindness with rod system impairment, characterised by the presence of numerous small, white-yellow retinal lesions. FA belongs to a heterogenous group of so-called flecked retina syndromes. This disorder shows autosomal recessive inheritance and is caused mostly by mutations in the RDH5 gene. This gene encodes the enzyme that is a part of the visual cycle, the 11-cis retinol dehydrogenase. This study is a brief review of the literature on FA and a report of the first molecular evidence for RDH5 gene mutation in a Polish patient with this rare disorder. We present a novel pathogenic RDH5 gene mutation in a 16-year-old female patient with symptoms of night blindness. The patient underwent ophthalmological examinations, including colour vision testing, fundus photography, automated visual field testing, full-field electroretinography (ERG) and spectral optical coherent tomography (SOCT). The patient showed typical FA ERG records, the visual field was constricted and fundus examination revealed numerous characteristic, small, white-yellowish retinal lesions. DNA sequencing of the RDH5 gene coding sequence (exons 2-5) enabled the detection of the homozygous missense substitution c.524A > T (p.Tyr175Phe) in exon 3. This is the first report of RDH5 gene mutation that affects the invariant tyrosine, one of the most conserved amino acid residues in short-chain alcohol dehydrogenases/reductases (SDRs), crucial for these enzymes\' activity. The location of this substitution, together with its predicted influence on the protein function, indicate that the p.Tyr175Phe mutation is the cause of FA in our patient.

The aim of this study was to describe multimodal retinal imaging of fundus albipunctatus (FA) with the newly identified compound heterozygous RDH5 mutation and to review the relevant literature. Five family members were examined, and the RDH5 gene was analyzed by direct sequencing. The clinical features and genetic study of FA are reviewed. The proband had a compound heterozygotic missense mutation of Cys59Ser (TGC → AGC) and a nonsense mutation of Trp95ter (TGG → TGA) in the RDH5 gene. Fundus examination revealed diffuse yellow flecks with foveal sparing. Infrared reflectance (IR) imaging showed multiple discrete round lesions, and fundus autofluorescence (FAF) imaging showed decreased autofluorescence. In spectral domain optical coherence tomography (SD-OCT), the lesions spanned across the retinal pigment epithelium complex and the photoreceptor inner segment ellipsoid band. The outer nuclear layer thickness is decreased compared to normal control. Electroretinography (ERG) showed improved dark-adapted responses after a prolonged 2.5-h dark adaptation. The fundi of the patient\'s son and daughter both appeared unremarkable. The clinical findings, differential diagnosis, and genetic studies of these features are reviewed. This is the first time that IR imaging of this disease has been reported; IR imaging showed more detail than did FAF imaging. Although retinal imaging (fundus photographs, FAF, IR, SD-OCT) of FA showed characteristic findings, ERG and genetic study remain the most reliable tests for making the diagnosis.

OBJECTIVE: To determine if vitamin A supplementation is associated with reductions in mortality and morbidity in children aged 6 months to 5 years.
METHODS: Systematic review and meta-analysis. Two reviewers independently assessed studies for inclusion. Data were double extracted; discrepancies were resolved by discussion. Meta-analyses were performed for mortality, illness, vision, and side effects.
METHODS: Cochrane Central Register of Controlled Trials (CENTRAL) in the Cochrane Library, Medline, Embase, Global Health, Latin American and Caribbean Health Sciences, metaRegister of Controlled Trials, and African Index Medicus. Databases were searched to April 2010 without restriction by language or publication status.
METHODS: Randomised trials of synthetic oral vitamin A supplements in children aged 6 months to 5 years. Studies of children with current illness (such as diarrhoea, measles, and HIV), studies of children in hospital, and studies of food fortification or β carotene were excluded.
RESULTS: 43 trials with about 215,633 children were included. Seventeen trials including 194,483 participants reported a 24% reduction in all cause mortality (rate ratio=0.76, 95% confidence interval 0.69 to 0.83). Seven trials reported a 28% reduction in mortality associated with diarrhoea (0.72, 0.57 to 0.91). Vitamin A supplementation was associated with a reduced incidence of diarrhoea (0.85, 0.82 to 0.87) and measles (0.50, 0.37 to 0.67) and a reduced prevalence of vision problems, including night blindness (0.32, 0.21 to 0.50) and xerophthalmia (0.31, 0.22 to 0.45). Three trials reported an increased risk of vomiting within the first 48 hours of supplementation (2.75, 1.81 to 4.19).
CONCLUSIONS: Vitamin A supplementation is associated with large reductions in mortality, morbidity, and vision problems in a range of settings, and these results cannot be explained by bias. Further placebo controlled trials of vitamin A supplementation in children between 6 and 59 months of age are not required. However, there is a need for further studies comparing different doses and delivery mechanisms (for example, fortification). Until other sources are available, vitamin A supplements should be given to all children at risk of deficiency, particularly in low and middle income countries.

BACKGROUND: Maternal postpartum vitamin A supplementation (VAS) provides an opportunity to improve vitamin A nutriture of breast fed infants in developing countries and can possibly prevent infant mortality and morbidity attributable to vitamin A deficiency.
OBJECTIVE: To evaluate the effect of maternal postpartum VAS on infant mortality, morbidity and adverse effects.
METHODS: Systematic review, meta-analysis and meta-regression of randomized controlled trials.
METHODS: Electronic databases and abstracts and proceedings of micronutrient conferences.
METHODS: Randomized or quasi-randomized, placebo-controlled trials evaluating the effect of postpartum, maternal synthetic VAS on mortality or morbidity within infancy (<1 year), or adverse effects.
RESULTS: The seven included trials were from developing countries. There was no evidence of a reduced risk of mortality during infancy [relative risk (RR) 1.05, 95% confidence interval (CI) 0.92-1.20, P = 0.438; I² = 0%, P = 0.940]. No variable emerged as a significant predictor of mortality but data for high-risk groups (high maternal night blindness prevalence and low birth weights) was restricted. Neonatal mortality data was available from a single study, (RR 1.09, 95% CI 0.88-1.35; P = 0.422). In two trials, there was no evidence of a reduced risk of cause-specific mortality. In one trial, there was no evidence of a decrease in either diarrhoea or acute respiratory infection. No adverse effects were reported in the single relevant trial.
CONCLUSIONS: There is no evidence of a mortality or morbidity benefit to the infant following postpartum maternal VAS. Only prevention of infant morbidity or mortality would be sufficient justification for initiating this intervention in public health programmes.

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