OBJECTIVE

To describe a case of dengue-associated bilateral neuroretinitis in a young female adult.

This is a case report.

A 25-year-old female was referred for evaluation of bilateral blurring of vision during the convalescent stage of dengue fever. Visual acuity was 20/80 in each eye. Fundoscopy showed mild optic disc swelling, macular thickening, and hard exudates bilaterally. Dengue-associated neuroretinitis was considered. Intravenous methylprednisolone treatment for three days resulted in significant improvements in visual function and resolution of fundus abnormalities.

Dengue is a potential etiology of neuroretinitis in endemic areas, especially in those who develop visual symptoms during the convalescent phase. Prompt recognition and treatment may prevent long-term visual impairment.

Background and Objective: The Philippines does not have a national congenital rubella syndrome (CRS) surveillance or registry. Regular monitoring of CRS cases in hospitals, including in a Philippine tertiary hospital, helped in the past to provide clinico-epidemiologic data on CRS. This study aimed to continue providing clinico-epidemiologic data on CRS cases seen in the Philippine tertiary hospital from 2009-2012 and 2019-2022 and compare the cases seen from said timelines. Methods: A cross-sectional study was used, employing chart review of patients newly diagnosed with CRS from 2009-2012 and 2019-2022 in the Department of Ophthalmology and Visual Sciences at the Philippine tertiary hospital. Results: Forty-two patients newly diagnosed with CRS from 2009-2012 and 2019-2022 were included. Only 14 (33%) were serologically-confirmed cases (albeit qualitatively). Median age (first and third interquartile ranges) at consult was 1 year (0.4, 2.5). Twenty-four (57%) patients had maternal history of rashes and/or fever. Trimester of pregnancy when mother became symptomatic was not significantly correlated with chief complaint (p=0.20) and numbers of ophthalmic (p=0.68) and systemic manifestations (p=0.32). Cataract was the most common ophthalmic manifestation present in 40 (95%) patients. Twenty-six (62%) patients had other associated systemic findings of which hearing loss was the most common. Only 29 of 40 patients with cataract underwent lensectomy, with 23 patients having poor visual prognosis prior to surgery (5 with nystagmus alone, 10 with nystagmus and strabismus, and 8 with strabismus alone). Discussion: Using ophthalmic manifestations as primary indicator, this study provided an update on the CRS cases in the country. Laboratory confirmation remains a challenge in diagnosing CRS as the tests are costly and not widely available. There was increase from 2009-2012 compared to 2019-2022 in number of patients who underwent surgical treatment for cataract but visual outcomes were suboptimal due to delay in consultation. Although there was a decrease in number of CRS cases seen in the Philippine tertiary hospital, this cannot be attributed to increased rubella-containing vaccine (RCV) coverage alone. Conclusion Provision of data from individual hospital-based studies similar to this highlights the need for a national CRS surveillance system or registry. This can better gauge the burden of CRS and identify the gap in RCV coverage.
Rubella Syndrome, Congenital ; Retinitis Pigmentosa

OBJECTIVES

To determine the phenotypic and genotypic characterization of individuals with retinitis pigmentosa (RP), identify their genetic etiologies, and provide counseling to affected patients.

This non-interventional, observational study evaluated 18 patients with clinically-diagnosed RP from 15 different families. The patients underwent complete ophthalmological examination with retinal functional and morphologic assessment. Genetic testing was done using next-generation sequencing.

Ten gene mutations with 22 variants were identified. The inheritance pattern was predominantly autosomal recessive (70%). The most common mutation was EYS (27.8%). One possible novel gene, RGS7, and novel variants of CNGB1 were identified. Characteristic RP profiles were observed, with syndromic findings noted in USH2A and BBS5 mutations.

Phenotypic characteristics among different gene mutations have distinct features. This is the first study in the country to demonstrate the genotypic heterogeneity of RP, displaying 22 variants with 3 noted novel mutations.

OBJECTIVE: To explore the genetic basis for a patient with early-onset retinitis pigmentosa (RP). METHODS: A patient who had presented at the West China Hospital of Sichuan University on March 10, 2020 was selected as the study subject. The patient and his parents were subjected to whole exome sequencing (WES). Candidate variants were verified by Sanger sequencing and in silico analysis. RESULTS: The patient has featured substantial loss of binocular vision field. Funduscopy revealed characteristic bone spicule-type pigment deposits, as well as attenuated retinal arterioles and pale-appearing optic discs. WES revealed that he has harbored compound missense variants of a RP-associated CRB1 gene, including c.2969T>C (p.Leu990Ser) and c.1816T>C (p.Cys606Arg), which were respectively inherited from his father and mother. Homozygous c.1816T>C (p.Cys606Arg) variant has been identified among RP patients, whilst the c.2969T>C (p.Leu990Ser) variant was unreported previously. Both variants were predicted as likely pathogenic based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). CONCLUSION The novel compound heterozygous variants of the CRB1 gene probably underlay the early-onset RP in this patient. Above finding has enriched the mutational spectrum of the CRB1 gene.
Male ; Female ; Humans ; China ; Genomics ; Homozygote ; Mothers ; Retinitis Pigmentosa/genetics* ; Eye Proteins/genetics* ; Membrane Proteins/genetics* ; Nerve Tissue Proteins/genetics*

OBJECTIVE: To explore the genetic basis for a Chinese patient with retinitis pigmentosa (RP). METHODS: Whole exome sequencing (WES) was carried out to screen potential variant in the proband. Candidate variants were determined by taking consideration of clinical phenotype. Sanger sequencing was used to verify the variant in the proband and his parents. RESULTS: The proband was found to harbor compound heterozygous variants of c.8G>A (p.Cys3Tyr) and c.958_959insA (p.Arg320Glnfs*29) in the C2ORF71 gene, which has derived from his father and mother, respectively. Both variants were unreported previously. Based on the ACMG guidelines, they were predicted to be likely pathogenic and pathogenic, respectively. CONCLUSION The novel compound heterozygous variants of the C2ORF71 gene probably underlay the pathogenesis of RP in the proband. Above finding has enriched the spectrum of C2ORF71 gene mutations and facilitated genetic counseling for the family.
Asians/genetics* ; China ; Humans ; Mutation ; Pedigree ; Retinitis Pigmentosa/genetics* ; Whole Exome Sequencing

OBJECTIVE: To carry out genetic testing and prenatal diagnosis for a Chinese couple whom had conceived two fetuses featuring multiple malformations including polycystic kidney, polydactyly and encephalocele. METHODS: Following elective abortion, the fetus from the second pregnancy was subjected to whole exome sequencing. Suspected pathogenic variants were verified by Sanger sequencing of the fetus and its parents. RESULTS: The fetus was found to harbor compound heterozygous variants of the CEP290 gene, namely c.2743G>T (p.E915X) and c.2587-2A>T, which were respectively inherited from its father and mother. The same variants were not detected among 100 healthy controls nor reported previously. Bioinformatic analysis suggested both variants to be deleterious. The fetus was diagnosed with Meckel-Gruber syndrome. Prenatal diagnosis for the couple during their next pregnancy suggested that the fetus did not carry the above pathogenic variants. CONCLUSION The compound heterozygous variants of the CEP290 gene probably underlay the pathogenesis of Meckel-Gruber syndrome in the second fetus. Above finding has provided a basis for genetic counseling and prenatal diagnosis for the couple, and also enriched the mutational spectrum of the CEP290 gene.
China ; Ciliary Motility Disorders ; Encephalocele/genetics* ; Female ; Genetic Testing ; Humans ; Pedigree ; Polycystic Kidney Diseases/genetics* ; Pregnancy ; Prenatal Diagnosis ; Retinitis Pigmentosa

PURPOSE: To report a case of retinal toxicity after an intravitreal ganciclovir injection to treat acute retinal necrosis in an eye filled with silicone oil.CASE SUMMARY: A 56-year-old male presented with ocular pain and visual loss in his right eye. His best-corrected visual acuity was 20/25, inflammatory cells in the anterior chamber, multiple retinitis lesions and retinal vessel occlusions in the peripheral retina and vitreous opacity were showed. Acute retinal necrosis was suspected, anterior chamber polymerase chain reaction (PCR) test was done. Aciclovir 2,400 mg/day intravenously and ganciclovir 2.0 mg were administered by intravitreal injection. After 4 days, retinitis was worsened and PCR test was positive for varicella zoster virus. Ganciclovir intravitreal injections were increased twice a week. After 16 days, retinal detachment occurred, so scleral encircling, vitrectomy, laser photocoagulation, and silicone oil tamponade were conducted. Ganciclovir 1.0 mg was injected at the end of surgery. The patient's visual acuity decreased to hand motion, and multiple crystal deposits with multiple retinal hemorrhages were observed in the right eye the next day. Visual acuity did not recover and optical coherent tomography showed that the macula was thinned.CONCLUSIONS: Visual loss seemed to be related with the retinal toxicity of ganciclovir. The increased local concentration due to the silicone oil tamponade is thought to have caused the toxicity.
Acyclovir ; Anterior Chamber ; Ganciclovir ; Hand ; Herpesvirus 3, Human ; Humans ; Intravitreal Injections ; Light Coagulation ; Male ; Middle Aged ; Polymerase Chain Reaction ; Retina ; Retinal Detachment ; Retinal Hemorrhage ; Retinal Necrosis Syndrome, Acute ; Retinal Vessels ; Retinaldehyde ; Retinitis ; Silicon ; Silicones ; Visual Acuity ; Vitrectomy

No abstract available.
Bardet-Biedl Syndrome ; Humans ; Retinitis Pigmentosa ; Retinitis

Delusional disorder is an illness presenting with ideas of false beliefs based on incorrect inference about external reality that persist despite the evidence to the contrary and these beliefs are not ordinarily accepted by other members of the person's culture or subculture1 • 2 • The patient is a 25-year old, male, single, former massage therapist, 1st in a brood of 3 children from a province in Visayas, Philippines, brought to the clinic due to talking incoherently with inconsistent responses. This presented after competing in Palarong Pambansa for the disabled. He participated in the blind category since he was diagnosed with Retinitis Pigmentosa. Retinitis pigmentosa (RP) is a group of genetic disorders that affect the retina's ability to respond to light. This inherited disease causes a slow loss of vision, beginning with decreased night vision and loss of peripheral (side) vision, and eventually blindness3 • He won many competitions, after which started hearing voices accusing him of cheating. This persisted for months which lead him to develop incoherent responses when talked to, which prompted his relatives to bring him for psychiatric consult. This is an interesting case of patient with a psychiatric condition who also presented with a degenerative disease.
Retinitis

PURPOSE: We report a case of cytomegalovirus (CMV) retinitis following placement of an intravitreal dexamethasone implant in an immunocompetent patient diagnosed with non-infectious uveitis. CASE SUMMARY: A 60-year-old woman was referred to our hospital for recurrent anterior uveitis. Fundus examination and fluorescein angiography showed dense vitritis, but no definite retinal infiltration. After laboratory examinations, the patient was diagnosed with non-infectious panuveitis. Uveitis was much improved after the patient started taking oral steroid medication. However, the patient complained of systemic side effects from the oral steroids. Medication was stopped, and an intravitreal dexamethasone implant was fitted to address worsening inflammation. Two months later, perivascular retinal infiltration developed and vitritis recurred. Viral retinitis was suspected, and the patient underwent diagnostic vitrectomy adjunctive with intravitreal ganciclovir injection. Polymerase chain reaction of vitreous fluid confirmed the diagnosis of CMV retinitis. The patient has remained inflammation-free for more than 20 months after vitrectomy, single ganciclovir injection, and 2 months of oral valganciclovir medication. CONCLUSIONS: This is a case report of CMV retinitis following placement of an intravitreal dexamethasone implant in an immunocompetent patient without any risk factors or previous history of immunosuppression. Potential risk factors for CMV retinitis should be evaluated and careful follow-up should be performed when intravitreal dexamethasone injections are unavoidable for the treatment of non-infectious uveitis.
Cytomegalovirus Retinitis ; Cytomegalovirus ; Dexamethasone ; Diagnosis ; Female ; Fluorescein Angiography ; Follow-Up Studies ; Ganciclovir ; Humans ; Immunosuppression ; Inflammation ; Middle Aged ; Panuveitis ; Polymerase Chain Reaction ; Retinaldehyde ; Retinitis ; Risk Factors ; Steroids ; Uveitis ; Uveitis, Anterior ; Vitrectomy