Subluxation or dislocation of PCIOL is one of the complications of cataract operation in RP patients. This paper reports the presentation of PCIOL dislocation and subluxation and the management and outcome in 3 eyes of 2 RP patients. Two medical records of patients with RP who developed dislocated or subluxated PCIOL and subsequently underwent explantation of the dropped IOL were evaluated. Two patients had bilateral eye cataract operation done and had PCIOL implanted. Patient 1 developed left eye subluxated PCIOL inferiorly after 2 years of the cataract operation and right eye dislocated PCIOL anteriorly 4 years after cataract operation. Patient 2 develop right eye subluxated PCIOL inferiorly after 12 years of the cataract operation. Patient 1 with right eye dislocated PCIOL underwent intraocular lens (IOL) explantation and was left aphakic as her visual prognosis was poor due to advanced RP. The left IOL remained within the visual axis despite subluxation and no intervention has been done. Patient 2 with right eye subluxated PCIOL underwent IOL explantation and anterior chamber intraocular lens (ACIOL) implantation. ACIOL remained stable and visual acuity improved post-operation. Both the operations were uneventful. Post-operatively, there was no elevated intraocular pressure and no prolonged ocular inflammation, which required prolonged anti-inflammatory and no retinal detachment was seen. Both patient and surgeon should be aware of potential PCIOL subluxation or dislocation in RP. The presentation may be as late as more than a decade after the cataract operation.
Retinitis Pigmentosa

No abstract available.
Humans ; Retinitis Pigmentosa* ; Retinitis*

Pigmented Paravenous Retinochoroidal Atrophy(PPRCA) is a type of pigmentary retinopathy that affects mostly both eyes symmetrically without inheritance. The PPRCA occurs in both progressive and non-progressive forms, but most cases are non-progressive forms. The fundus appearance of PPRCA is characteristic, with peripapillary pigmentary change as well as areas of retinochoroidal atrophy adjacent to the perivenular pigmentary change. The authors have studied a case of PPRCA which was diagnosed through the characteristic fundus appearance and other ophthalmological examinations.
Atrophy ; Retinitis Pigmentosa ; Wills

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

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

The study group consisted of 5 Retinitis Pigmentosa families with no associated systemic conditions. DNA from these families were collected and screened for mutations in the rhodopsin and peripherin RDS genes using restriction endonuclease studies Methods : Patients were taken from the Philippine General Hospital - Medical Retina Clinic and the Resources for the Blind. All were clinically diagnosed as Retinitis Pigmentosa with a strong family history of nightblindness. All underwent complete ophthalmological examination including fundus photos and ERG. 5 - 10 cc of peripheral blood were extracted and sent to Stone Molecular Biology Lab at University of Iowa Hospital and Clinics Results: 5 families had negative results for known mutations in rhodopsin and peripherin RDS genes.
Human ; Adult ; Young Adult ; Adolescent ; RETINITIS PIGMENTOSA

Methods: This is a case report. Results: A 7-year-old boy was diagnosed to have Bardet-Biedl syndrome based on the presence of five of the six primary manifestations of the disease: retinitis pigmentosa, obesity, postaxial polydactyly, learning disabilities, hypogenitalism, and renal dysfunction. Conclusion: Bardet-Biedl has ocular and systemic manifestations requiring a multidisciplinary approach to treatment.
Human ; Male ; Child ; BARDET-BIEDL SYNDROME ; RETINITIS PIGMENTOSA ; POLYDACTYLY ; OBESITY ; RETINITIS PIGMENTOSA

Crystalline retinopathy is a tapetoretinal degeneration characterized by glistening yellow intraretinal crystals in the posterior pole, chorioidal sclerosis, and corneal crystalline dystrophy. We have recently encountered a 36 year-old female patient with bilateral intraretinal crystalline depositions who presented with a complaint of visual disturbance in her right eye for the last six months. Typical fundus findings of crystalline deposition in the posterior pole, tapetoretinal dysfunctions in the electrophysiologic tests and choriocapillaris filling defects in the fluorescein angiogram suggest that this the disorder is a widespread choriocapillaris and tapetoretinal disorder. There are no significant abnormal findings in serologic and radiologic examinations.
Adult ; Crystallins* ; Female ; Fluorescein ; Humans ; Retinitis Pigmentosa ; Sclerosis

Retinitis pigmentosa (RP) is a group of inherited disorders which involve photoreceptors of the retina and can lead to visual loss. The genetic and clinical phenotypes of RP feature high heterogeneity. RP can be divided into nonsyndromic and syndromic types, both may feature autosomal dominant, autosomal reccesive and X-linked inheritance. So far, many genes have been identified, most of which are expressed in the photoreceptors or retinal pigment epithelium. Sixty-three genes have been identified in nonsyndromic RP. This paper reviews recent progress in the research of the genetics of RP.
Genes, X-Linked ; Humans ; Proteins ; genetics ; Retinitis Pigmentosa ; genetics

Glaucoma is rarely complicated by retinitis pigmentosa (RP). To provide clinical evidences for this rare situation, we report the concurrence of these two diseases in two children of a Chinese family. In the present two-child Chinese family without positive history, the older sister presented with bilateral sector RP and coexisting chronic angle-closure glaucoma, and the brother with bilateral whole RP but without coexisting glaucoma. Clinical evidences in concurrence of variants of RP and glaucoma because of possible different gene mutations from the same genetic background represent a rare situation, which may provide clues for future researches in molecular pathogenesis of these rare diseases.
Female ; Glaucoma ; diagnosis ; Humans ; Retinitis Pigmentosa ; diagnosis ; Young Adult