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1.
Oman J Ophthalmol ; 17(1): 25-31, 2024.
Article in English | MEDLINE | ID: mdl-38524345

ABSTRACT

PURPOSE: To evaluate the factors influencing the refractive outcomes following silicone oil tamponade (SOT) and silicone oil removal (SOR) in different lens statuses post-vitreoretinal surgery. DESIGN: Retrospective analysis of three different lens statuses. MATERIALS AND METHODS: This was a descriptive study that included 150 eyes of 147 patients who had undergone pars plana vitrectomy with SOT and SOR between January 2017 and June 2021. Demographic profile, spherical equivalent refraction (SER), and its association with clinical features were evaluated with SOT and post-SOR. RESULTS: The mean (±standard deviation [SD]) age was 47 ± 17.8 years, including all three groups. SER was represented in diopters (D). The mean ± SD refraction with SOT in phakic, pseudophakic, and aphakic was 4.28 ± 2.59 D, 2.94 ± 2.58 D, and 3.98 ± 4.82 D. The mean SER post-SOR in phakic, pseudophakic, and aphakic was -2.72 ± 2.03 D, -1.12 ± 1.41 D, and 8.22 ± 3.70 D. The diagnosis of rhegmatogenous retinal detachment (RRD) among 96 eyes (64%) is the common indicator to perform vitreoretinal (VR) surgery. A minority of subjects were managed with retinal lasers before VR surgery (14%). The macula was attached in 100 eyes (67.6%), the belt buckle was done in 37 eyes (24.7%), and the silicone oil viscosity with 1000 centistoke was chosen in 129 eyes (86%). CONCLUSION: SOT was used as a tamponade in VR surgeries irrespective of lens status. The significant predictor for post-SOR refraction in phakic and aphakic is post-SOT refraction. In pseudophakic, gender and diagnosis of RRD are the predictors of SOR refraction.

2.
Ophthalmic Genet ; : 1-10, 2024 Feb 07.
Article in English | MEDLINE | ID: mdl-38323530

ABSTRACT

INTRODUCTION: Mutations in the retinal pigment epithelial 65 kilodalton protein (RPE65) gene are associated with various inherited retinal diseases (IRDs), including Leber congenital amaurosis (LCA), early-onset severe retinal dystrophy (EOSRD), and retinitis pigmentosa (RP). We screened for mutations in RPE65 in a series of Indian patients with these IRDs to determine the frequency/types of mutations and to describe the associated phenotypes. MATERIALS AND METHODS: Diagnosis of LCA, EOSRD, and RP was made by standard and pre-defined criteria. Patients were evaluated by clinical, retinal imaging, and electrophysiological parameters. Genomic DNA from patients and available family members were used for identifying mutations by direct Sanger sequencing of the RPE65 gene or targeted NGS gene panel for IRDs covering 260+ genes. Variations detected were tested in healthy control populations and for co-segregation with the disease in available family members. RESULTS: Mutations were found in eight patients, out of 220 total cases screened, all homozygous for the respective mutant alleles. Seven patients had mutations leading to premature termination codons and one patient had a missense change. The onset of visual loss ranged from birth to <2 years of life. At presentation, RPE mottling in the background retina was present in all cases with macular involvement in five cases with or without vascular attenuation and optic disc pallor. CONCLUSION: RPE65 mutations in this series were found in 3.6% of cases associated with severe, early-onset disease, with consistent RPE mottling and variable manifestations with regard to the extent of disc pallor, arteriolar attenuation, and appearance of the macula.

3.
Graefes Arch Clin Exp Ophthalmol ; 262(2): 441-448, 2024 Feb.
Article in English | MEDLINE | ID: mdl-37861848

ABSTRACT

PURPOSE: Outcomes of retinal detachment (RD) have been discussed in detail in many reports of patients with retinitis pigmentosa (RP). This study tries to understand the outcomes of vitreoretinal (VR) surgery for indications other than RD in the eyes with RP. METHODS: This is a retrospective study that includes clinical data from January 2013 to December 2021. Patients with RP who were treated with a VR surgical intervention were included in the study. The primary outcome of the study was to assess the changes in best-corrected visual acuity. RESULTS: Forty-four eyes of 40 patients with RP were included in the study. Nearly half of the eyes (43%, 19/44) presented from 1 month to 1 year after the onset of diminished vision, with or without floaters. The mean ± standard deviation (SD) best-corrected visual acuity (BCVA) at presentation was 1.30 ± 0.79 logMAR (20/400 ± 20/125). The major surgical indications were vitreous opacities (43.2%, 19/44) and subluxated/dislocated cataractous lenses (25%, 11/44). The median follow-up duration was 8 months (interquartile range (IQR): 1.5-27). Approximately 77% (34/44) of the eyes had improvement in vision. The mean postoperative BCVA at the last follow-up was 0.95 ± 0.73 logMAR (p-value: 0.03). CONCLUSIONS: Most eyes with RP recovered well after VR surgical interventions, with short-term improvements in visual acuity. It may be crucial to address the vitreous opacities and membranes as they hinder the residual central island of vision in RP. However, appropriate counselling is required regarding the progressive nature of retinal neuronal degeneration.


Subject(s)
Retinal Detachment , Retinitis Pigmentosa , Vitreoretinal Surgery , Humans , Retinal Detachment/diagnosis , Retinal Detachment/surgery , Retrospective Studies , Retinitis Pigmentosa/complications , Retinitis Pigmentosa/diagnosis , Retinitis Pigmentosa/surgery , Retina
4.
Ophthalmol Ther ; 13(1): 21-50, 2024 Jan.
Article in English | MEDLINE | ID: mdl-38113023

ABSTRACT

This comprehensive review provides a thorough examination of inherited retinal diseases (IRDs), encompassing their classification, genetic underpinnings, and the promising landscape of gene therapy trials. IRDs, a diverse group of genetic conditions causing vision loss through photoreceptor cell death, are explored through various angles, including inheritance patterns, gene involvement, and associated systemic disorders. The focal point is gene therapy, which offers hope for halting or even reversing the progression of IRDs. The review highlights ongoing clinical trials spanning retinal cell replacement, neuroprotection, pharmacological interventions, and optogenetics. While these therapies hold tremendous potential, they face challenges like timing optimization, standardized assessment criteria, inflammation management, vector refinement, and raising awareness among vision scientists. Additionally, translating gene therapy success into widespread adoption and addressing cost-effectiveness are crucial challenges to address. Continued research and clinical trials are essential to fully harness gene therapy's potential in treating IRDs and enhancing the lives of affected individuals.

5.
Indian J Ophthalmol ; 71(8): 3118-3119, 2023 08.
Article in English | MEDLINE | ID: mdl-37530300

ABSTRACT

Background: Ultrasound biomicroscopy (UBM) is a noninvasive imaging modality that enables in-vivo visualization of the structures of the anterior segment of the eye. Unlike routine ophthalmic diagnostic ultrasound which uses frequencies of 5-10 MHz, UBM utilizes ultrasound frequencies in the range of 50-100 MHz. The high-frequency probes in UBM allows for higher resolution and better visualization of subsurface ocular structures, even in the presence of anatomic or pathological obscuration. UBM has qualitative as well as quantitative applications in various disorders affecting the anterior segment of the eye. Despite its huge importance, many clinicians lack in knowledge about the technique and its clinical usefulness. The current educational video aims to address this gap in knowledge by highlighting the technique and various clinical indications of UBM. Purpose: The purpose of this video is to demonstrate the technique of UBM and showcase its quantitative and qualitative implications and importance through various clinical cases. Synopsis: UBM is an imaging technique that assesses the depth of tissue structures by measuring the time delay of the returning ultrasound signal. This modality is capable of measuring the size of various structures within the eye, such as the cornea, iris, ciliary body, sclera, and the depth of the anterior and posterior chamber. To perform a UBM, a transducer is inserted into a specially designed eye cup filled with distilled water, creating a water bath environment. Axial and longitudinal scans can be performed in a similar fashion as in routine diagnostic B-scan ultrasound. Quantitative indications for UBM depicted in this video include measurements of corneal thickness, depth of the anterior chamber, and the width of the angle. The video also showcases how UBM can aid in the diagnosis and management of various anterior segment disorders like angle-closure glaucoma, plateau iris configuration, secondary glaucoma, and anterior uveitis with complicated cataract. Qualitative indications for UBM highlighted in this video include its role in intermediate uveitis, ocular hypotony, ocular surface tumors, cystic lesions of iris, and identifying the location and type of intraocular foreign bodies in the anterior segment based on the type of artifact seen. Additionally, the video shows the applications of UBM in scleral and episcleral pathologies. Highlights: This video will educate clinicians about the technique of UBM and showcase a bouquet of UBM findings in various case scenarios, helping one to better understand the potential of this modality in clinical practice. Video link: https://youtu.be/F626TMbJXoU.


Subject(s)
Eye Neoplasms , Glaucoma , Humans , Microscopy, Acoustic/methods , Anterior Eye Segment/diagnostic imaging , Iris/diagnostic imaging , Ciliary Body/diagnostic imaging , Water
6.
Indian J Ophthalmol ; 71(3): 902-908, 2023 03.
Article in English | MEDLINE | ID: mdl-36872706

ABSTRACT

Purpose: To assess the incidence, visual impairment, and blindness due to retinitis pigmentosa (RP) in a rural southern Indian cohort. Methods: This is a population-based longitudinal cohort study of participants with RP from the Andhra Pradesh Eye Disease Study (APEDS) cohorts I and III, respectively. The study included participants with RP of APEDS I who were followed until APEDS III. Their demographic data along with ocular features, fundus photographs, and visual fields (Humphrey) were collected. Descriptive statistics using mean ± standard deviation with interquartile range (IQR) were calculated. The main outcome measures were RP incidence, visual impairment, and blindness as per the World Health Organization (WHO) definitions. Results: At baseline (APEDS I), 7771 participants residing in three rural areas were examined. There were nine participants with RP with a mean age at baseline of 47.33 ± 10.89 years (IQR: 39-55). There was a male preponderance (6:3), and the mean best-corrected visual acuity (BCVA) of 18 eyes from nine participants with RP was 1.2 ± 0.72 logarithm of minimum angle of resolution (logMAR; IQR: 0.7-1.6). Over a mean follow-up duration of 15 years, 5395/7771 (69.4%) were re-examined, which included seven RP participants from APEDS 1. Additionally, two new participants with RP were identified; so, the overall incidence was 370/ million in 15 years (24.7/million per year). The mean BCVA of 14 eyes of seven participants with RP who were re-examined in APEDS III was 2.17 ± 0.56 logMAR (IQR: 1.8-2.6), and five of these seven participants with RP developed incident blindness during the follow-up period. Conclusion: RP is a prevalent disease in southern India that warrants appropriate strategies to prevent this condition.


Subject(s)
Retinitis Pigmentosa , Vision, Low , Male , Humans , Adult , Middle Aged , Follow-Up Studies , Longitudinal Studies , Blindness , India
7.
Ophthalmic Genet ; 44(6): 610-617, 2023 Dec.
Article in English | MEDLINE | ID: mdl-36927170

ABSTRACT

BACKGROUND: X-linked retinoschisis (XLRS) is a rare inherited bilateral retinal degeneration caused by mutations in RS1 gene, occurring exclusively in men. Various ocular complications associated with XLRS are reported, and angle closure glaucoma in these eyes is one such complication that is refractory and needs surgery for intraocular pressure control. Glaucoma surgery in these eyes often results in refractory malignant glaucoma with its serious sequelae. Several surgical modifications to prevent this complication have been tried with no or limited success. METHODOLOGY: In this report, we present a case of XLRS in a young male with a 22-year follow-up. We have described the natural history and progression of retinal disease and glaucoma. RESULTS: Refractory angle closure glaucoma in our patient was treated with core vitrectomy, phacoemulsification with intraocular lens implantation, and irido-zonulo-hyaloido-vitrectomy. This helped in successful deepening of anterior chamber, good IOP control, and preventing malignant glaucoma. CONCLUSION: Our case highlights the role of vitrectomy in managing the secondary angle closure glaucoma in eyes with X-LRS.


Subject(s)
Glaucoma, Angle-Closure , Glaucoma , Retinoschisis , Humans , Male , Glaucoma, Angle-Closure/genetics , Glaucoma, Angle-Closure/surgery , Retinoschisis/genetics , Retinoschisis/surgery , Glaucoma/pathology , Anterior Chamber/pathology , Intraocular Pressure
8.
Indian J Ophthalmol ; 71(2): 418-423, 2023 02.
Article in English | MEDLINE | ID: mdl-36727331

ABSTRACT

Purpose: To describe the demographics, clinical profile, and outcomes of ocular siderosis in patients presenting to a multi-tier ophthalmology hospital network in India. Methods: This cross-sectional and hospital-based study included 3,082,727 new patients who presented between August 2010 and December 2021. Patients with a clinical diagnosis of ocular siderosis in at least one eye were included. Results: Overall, 58 eyes of 57 patients (0.002%) were diagnosed with ocular siderosis. The majority were men (96.49%) and had unilateral (98.25%) affliction. The most common age group at presentation was during the third decade of life with 24 patients (42.11%). A clear history of ocular trauma was documented in 47 patients (81.03%). Major clinical signs included corneal pigment deposition in nearly half of the eyes (27/58 eyes, 46.55%), corneal scar (20/58 eyes, 34.48%), cataract (22/58 eyes, 37.93%) and retinal detachment (11/58 eyes, 18.96%). The intraocular foreign body (IOFB) was anatomically localized in a majority of the eyes (i.e., 45/58 eyes, 77.59%). The most common location of the IOFB was in the posterior segment (22/58 eyes, 37.93%). The eyes that underwent a vitreoretinal surgery with removal of IOFB had a slightly better BCVA (1.0 ± 1.01) when compared to eyes with non-removal of IOFB (1.58 ± 1.00). Conclusion: Ocular siderosis is a rare sight-threatening entity, with half of the affected eyes exhibiting severe visual impairment. Majority of the eyes in ocular siderosis will have a detectable IOFB. Surgical removal of IOFB may lead to a better visual gain when compared to non-removal.


Subject(s)
Eye Diseases , Eye Foreign Bodies , Eye Injuries, Penetrating , Siderosis , Male , Humans , Female , Siderosis/diagnosis , Siderosis/epidemiology , Siderosis/surgery , Electronic Health Records , Cross-Sectional Studies , Data Science , Eye Injuries, Penetrating/surgery , Vitrectomy , Retrospective Studies , Eye Diseases/diagnosis , Eye Diseases/epidemiology , Eye Diseases/surgery , Eye Foreign Bodies/diagnosis , Demography
9.
Ocul Immunol Inflamm ; : 1-4, 2023 Feb 09.
Article in English | MEDLINE | ID: mdl-36758215

ABSTRACT

PURPOSE: To report a case of active retinochoroiditis in a neonate treated with intravitreal clindamycin as an adjuvant therapy. CASE REPORT: A 10-day-old infant presented with active retinochoroiditis lesions in both eyes along with hepatosplenomegaly, abdominal distension, and thrombocytopenia. The mother had a history of fever in the third trimester for which she received symptomatic treatment. The infant was treated with systemic anti-toxoplasma therapy along with intravitreal clindamycin in the severely affected eye. There was a significant faster resolution in the retinochoroiditis lesions, which eventually lead to better anatomical and visual outcomes. CONCLUSION AND IMPORTANCE: Active screening and timely intervention of the neonates who are born to mothers with fever during pregnancy can go a long way in preventing unlikely outcomes due to congenital toxoplasma retinochoroiditis. Intravitreal clindamycin can be considered as an adjuvant therapy in selected cases.

10.
Eye (Lond) ; 37(1): 97-102, 2023 01.
Article in English | MEDLINE | ID: mdl-35022564

ABSTRACT

PURPOSE: To report the disease pattern, progression and imaging characteristics in eyes with bilateral central serous chorioretinopathy (CSCR). METHODS: This was a retrospective case review of bilateral CSCR patients with active disease in at least one eye. Multimodal imaging including fundus photography, fundus autofluorescence, optical coherence tomography (OCT), fluorescein and indocyanine angiography (FA/ICGA) was done at baseline and follow-up visits. Disease classification was done using recently described classification criteria. The degree of asymmetry in the disease distribution pattern at baseline and disease progression during follow-up visit with a minimum duration of 12 months was studied. RESULTS: Among 103 CSCR patients, 36 patients (34.95%) with mean age of 53.6 ± 10.5 years had bilateral CSCR at baseline. Five patients (13.9%) had asymmetrical disease i.e. simple in one eye and complex in fellow eye. The remaining 31 patients had symmetric disease (simple, 2; complex 29). Mean duration of follow up was 17.58 ± 13.84 months. There was no significant difference between both eye parameters at last follow up (best corrected visual acuity, BCVA; central macular thickness, CMT; and subfoveal choroidal thickness, SFCT) (all p > 0.05). At last follow up, 22 eyes (2 simple and 20 complex) remained active whereas none of the eyes converted from simple to complex CSCR. CONCLUSION: Bilateral disease was more commonly seen with complex CSCR in contrast to simple CSCR. Moreover, disease distribution in complex CSCR had symmetric pattern if bilateral disease was present. None of the simple CSCR eyes converted to complex type.


Subject(s)
Central Serous Chorioretinopathy , Humans , Adult , Middle Aged , Follow-Up Studies , Retrospective Studies , Fluorescein Angiography/methods , Fundus Oculi , Tomography, Optical Coherence/methods
11.
Retin Cases Brief Rep ; 17(5): 511-514, 2023 Sep 01.
Article in English | MEDLINE | ID: mdl-35671446

ABSTRACT

PURPOSE: LAMA 1 gene as a pathologic variant leading to cerebellar dysplasia and cysts, nonprogressive ataxia, language, and motor developmental delay without any muscular involvement was recently described as Poretti-Boltshauser syndrome (PBS). Ocular involvement is a common associated feature in this neurodegenerative disorder. In this case report, we describe the retinal changes associated with Poretti-Boltshauser syndrome. METHODS, PATIENT, AND RESULTS: A 4-year-old female child presented with the progressive decreased vision for the past 6 to 8 months. Ophthalmic examination revealed mild myopia and ocular motor apraxia with retinal disruptions appearing as holes that were confined only to inner retinal layers. The child also had motor and speech developmental delays. Magnetic resonance imaging of the brain showed vermis hypoplasia with cerebellar dysgenesis and multiple cystic spaces in both cerebellar hemispheres. Whole exome sequencing revealed a homozygous pathogenic variant of exon 2-63 deletion in the LAMA 1 gene, which was confirmatory for Poretti-Boltshauser syndrome. CONCLUSION: Oculomotor apraxia and retinal changes can lead to visual disturbances in Poretti-Boltshauser syndrome. Identification of these features and prompt rehabilitative measures can improve the quality of life of these children.


Subject(s)
Abnormalities, Multiple , Apraxias , Child , Female , Humans , Child, Preschool , Quality of Life , Cerebellum/abnormalities , Cerebellum/pathology , Retina/pathology , Apraxias/diagnosis , Apraxias/genetics , Magnetic Resonance Imaging
12.
Indian J Ophthalmol ; 70(12): 4349-4356, 2022 12.
Article in English | MEDLINE | ID: mdl-36453343

ABSTRACT

Purpose: To describe the clinical features and treatment outcomes in spontaneous uveal effusion syndrome (UES). Methods: A 10-year retrospective chart review of UES patients from a tertiary eye center was carried out. Optical coherence tomography (OCT), fundus fluorescein angiography, and ultrasound biomicroscopy (UBM) scans were performed. UES was managed based on presenting best-corrected visual acuity (BCVA), symptoms, and fundus findings. Patients with secondary causes of uveal effusion were excluded. Results: Twenty-five eyes of 16 patients were included. Of the 16 patients, 14 (88%) were male and 9 (56%) had bilateral disease. Fifteen of 25 affected eyes had nanophthalmos (axial length (AL) <20.5 mm) and 6 had hyperopia with AL >20.5 mm. The presenting mean distance BCVA was 0.74 ± 0.64 logMAR (mean Snellen: 20/100). Eleven eyes had exudative retinal detachment, and 4 also had exudative choroidal detachment (CD). Choroidal thickness (CT) was increased in 11 eyes on B-scan ultrasonography, and the mean CT was 1.74 ± 0.38 mm. Sub-retinal fluid (SRF) and retinal folds were the most common OCT findings. UBM findings included shallow angles, peripheral CD, and supra-ciliary effusion. A combination of local and systemic corticosteroids was used to successfully treat 12 eyes, 6 needed surgery, and 7 were observed. Partial sclerectomy with anterior chamber maintainer-assisted SRF drainage was the favored surgery. The median period of follow-up was 6.5 months (0.1-76 months), and the mean distance BCVA at the last follow-up was 0.58 ± 0.42 logMAR (mean Snellen: 20/80). Conclusion: UES can be suitably managed both medically and surgically based on clinical presentation.


Subject(s)
Uveal Effusion Syndrome , Humans , Male , Female , Retrospective Studies , Treatment Outcome , Choroid , Fluorescein Angiography
13.
GMS Ophthalmol Cases ; 12: Doc13, 2022.
Article in English | MEDLINE | ID: mdl-35912129

ABSTRACT

We report a case of a 65-year-old female who presented to us with diminution of vision in the right eye. She was only able to perceive light in the right eye, and the left eye had a vision of 20/20, N6. Anterior segment examination in both eyes was unremarkable except for senile cataract in the left eye. Posterior segment examination revealed features of choroidal metastasis in both eyes and exudative retinal detachment in the right eye. Multimodal imaging helped in the further confirmation of metastatic lesions. Right-eye fundus autofluorescence showed hyperautofluorescent lesions, ultrasound B-scan showed an elevated mass lesion in the choroid with moderate to high internal echogenicity, and optical coherence tomography showed a lumpy-bumpy appearance of the retinal pigment epithelium as well as an elevated choroidal mass lesion beneath it. On detailed systemic evaluation, the primary site of cancer was found to be the lungs. The patient was referred to a pulmonologist and an oncologist for chemotherapy and further management.

14.
Indian J Ophthalmol ; 70(7): 2516-2525, 2022 07.
Article in English | MEDLINE | ID: mdl-35791148

ABSTRACT

Purpose: To evaluate patterns of pediatric vitelliform macular dystrophy (PVMD). Methods: This is a retrospective analysis of Indian children with vitelliform macular dystrophy (VMD) presenting within the first decade of life. Records were evaluated for clinical findings, family screening, and investigative findings including optical coherence tomography (OCT), fundus autofluorescence (FAF), full-field electroretinogram (ERG) and electrooculogram (EOG). Electrophysiology was scrutinized and audited for acquisition and interpretation errors. Findings on follow-up were also recorded. Results: 46 eyes of 24 patients were included. Mean age at presentation was 7.17 ± 2.17 years. Mean follow-up duration was 1.55 ± 1.69 years. Best disease was the commonest type of VMD detected (21 patients), while autosomal recessive bestrophinopathy was seen in three cases. Mean logMAR BCVA was 0.364 which decreased to 0.402 on follow-up. Hyperopia was noted in 29 out of 46 eyes (mean being +3.87 D, range ebing +0.75 to +8.75 D). Four eyes of four children had choroidal neovascular membrane at presentation, while another child developed while in follow-up. Solid type subretinal deposit was the commonest OCT finding (n = 29/38) and central hyper FAF was the commonest pattern (n = 18/32). EOG was available for review in 32 eyes, but was unreliable in 11 eyes. Seven eyes demonstrated complete absence of light rise on EOG. Conclusion: PVMD can present in advanced forms. Progression to complications with loss of visual acuity can happen within the first decade of life. EOG shows grossly suppressed waveforms in the light phase in a large number of such children.


Subject(s)
Retinal Dystrophies , Vitelliform Macular Dystrophy , Child , Electrooculography , Eye , Humans , Retinal Dystrophies/diagnosis , Retinal Dystrophies/epidemiology , Retrospective Studies , Vitelliform Macular Dystrophy/diagnosis , Vitelliform Macular Dystrophy/epidemiology
15.
Indian J Ophthalmol ; 70(7): 2533-2538, 2022 07.
Article in English | MEDLINE | ID: mdl-35791150

ABSTRACT

Purpose: To describe the clinical presentation and demographic distribution of retinitis pigmentosa (RP) in Laurence-Moon-Bardet-Biedl (LMBB) syndrome patients. Methods: This is a cross-sectional observational hospital-based study wherein 244 patients with RP in LMBB syndrome presenting to our hospital network between March 2012 and October 2020 were included. An electronic medical record database was used for data retrieval. Results: There were 244 patients in total, with a hospital-based prevalence rate of 0.010% or 1000/100,000 population. The mean and median age of patients was 15.22 ± 7.56 and 14 (IQR: 10-18.5) years, respectively, with the majority being in the age group of 11-20 years (133/244 patients; 54.50%). Males were more commonly affected (164 patients; 67.21%), and the majority (182 patients; 74.59%) were students. All 244 patients (100%) complained of defective central vision at presentation. More than one-fourth of the patients had severe visual impairment to blindness at presentation. Prominent retinal feature at presentation was diffuse or widespread retinal pigment epithelial degeneration in all patients. Conclusion: Patients with RP in LMBB syndrome present mainly in the first to second decade of life with severe visual acuity impairment to blindness early in life. It is important to rule out LMBB syndrome in early-onset RP with central visual acuity impairment. On the contrary, all patients diagnosed or suspected with LMBB syndrome systemic features at physician clinic should also be referred for ophthalmic evaluation, low vision assessment, rehabilitation, and vice versa.


Subject(s)
Bardet-Biedl Syndrome , Laurence-Moon Syndrome , Retinitis Pigmentosa , Adolescent , Adult , Blindness , Child , Cross-Sectional Studies , Data Science , Electronic Health Records , Humans , India/epidemiology , Male , Retinitis Pigmentosa/diagnosis , Retinitis Pigmentosa/epidemiology , Young Adult
16.
Indian J Ophthalmol ; 70(7): 2540-2545, 2022 07.
Article in English | MEDLINE | ID: mdl-35791152

ABSTRACT

Purpose: To describe the clinical presentation and demographic distribution of retinitis pigmentosa (RP) in patients with Usher syndrome (USH). Methods: This is a cross-sectional observational hospital-based study including patients presenting between March 2012 and October 2020. In total, 401 patients with a clinical diagnosis of USH and RP in at least one eye were included as cases. The data were retrieved from the electronic medical record database. For better analysis, all 401 patients were reclassified into three subtypes (type 1, type 2, and type 3) based on the USH criteria. Results: In total, there were 401 patients with USH and RP, with a hospital-based prevalence rate of 0.02% or 2/10,000 population. Further, 353/401 patients were subclassified, with 121 patients in type 1, 146 patients in type 2, and 86 patients in the type 3 USH group. The median age at presentation was 27 years (IQR: 17.5-38) years. There were 246 (61.35%) males and 155 (38.65%) females. Males were more commonly affected in all three subtypes. Defective night vision was the predominant presenting feature in all types of USH (type 1: 43 (35.54%), type 2: 68 (46.58%), and type 3: 40 (46.51%) followed by defective peripheral vision. Patients with type 2 USH had more eyes with severe visual impairment. Conclusion: RP in USH is commonly bilateral and predominantly affects males in all subtypes. Patients with USH and RP will have more affection of peripheral vision than central vision. The key message of our study is early visual and hearing rehabilitation in USH patients with prompt referral to otolaryngologists from ophthalmologists and vice versa.


Subject(s)
Retinitis Pigmentosa , Usher Syndromes , Cross-Sectional Studies , Data Science , Electronic Health Records , Female , Humans , India/epidemiology , Male , Retinitis Pigmentosa/diagnosis , Retinitis Pigmentosa/epidemiology , Usher Syndromes/diagnosis , Usher Syndromes/epidemiology
19.
Int Ophthalmol ; 42(10): 3137-3144, 2022 Oct.
Article in English | MEDLINE | ID: mdl-35585370

ABSTRACT

PURPOSE: To assess the clinical characteristics of comorbid retinal dystrophies and primary angle closure disease. DESIGN: Retrospective study from January 1992 to June 2020. METHODS: This descriptive study included 92 eyes of 46 patients with comorbid retinal dystrophies and primary angle closure disease (PACD) that included eyes with primary angle closure suspect, primary angle closure and primary angle closure glaucoma. Demographic profile, clinical characteristics of PACD and its association with retinal dystrophies are described. RESULTS: The study included 46 patients (92 eyes). Males were majority, 63%. Mean (± standard deviation) age when retinal dystrophy was diagnosed was 29.6 ± 9.4 years and PACD was diagnosed at 32.23 ± 7.92 years. Mean BCVA at presentation was 1.07 ± 0.87 log MAR [95% confidence interval (CI) 0.87, 1.26]. Mean Intraocular pressure at diagnosis of glaucoma was 27 ± 16 mmHg (95% CI 23.5, 31.5 mmHg). The most common retinal dystrophy associated with PACD was retinitis pigmentosa (RP) followed by RP with retinoschisis. The hospital-based prevalence of PACD among all patients with RP and retinoschisis was 0.19% and 0.15% respectively. Laser peripheral iridotomy was performed in 74 eyes (80.5%). Glaucoma was managed medically in majority of the eyes (58 eyes, 63.04%) and minority required surgical management with trabeculectomy (11, 11.9%). CONCLUSION: Retinitis pigmentosa is the most common retinal dystrophy associated with PACD. Comorbid PACD in eyes with retinal dystrophies was observed in second to third decade of life. This calls for screening for angle closure in eyes with retinal dystrophies from second decade onwards to identify the comorbid PACD and treat or refer them appropriately.


Subject(s)
Glaucoma, Angle-Closure , Retinal Dystrophies , Retinitis Pigmentosa , Retinoschisis , Trabeculectomy , Adult , Glaucoma, Angle-Closure/diagnosis , Glaucoma, Angle-Closure/epidemiology , Glaucoma, Angle-Closure/surgery , Humans , Intraocular Pressure , Male , Retinal Dystrophies/diagnosis , Retinal Dystrophies/epidemiology , Retinoschisis/surgery , Retrospective Studies , Young Adult
20.
Graefes Arch Clin Exp Ophthalmol ; 260(4): 1147-1152, 2022 Apr.
Article in English | MEDLINE | ID: mdl-34633519

ABSTRACT

PURPOSE: To assess the influence of fellow eye information on diagnosis and classification of central serous chorioretinopathy (CSCR) using multimodal imaging-based classification. METHODS: This was a retrospective, observational study including patients with CSCR with unilateral or bilateral involvement. Multimodal images of both eyes of each patient were compiled and presented to two masked retina specialists subdivided into three groups: (1) both eye data, (2) right eye data and (3) left eye data. The masked observers graded the CSCR as per the new CSCR classification into simple and complex CSCR in three different scenarios as subdivided above. Interobserver and intraobserver agreement was assessed using Cohen's kappa (95% confidence intervals). RESULTS: A total of 206 eyes of 103 patients with unilateral or bilateral CSCR were graded. We found a "strong" intraobserver and interobserver agreement when one eye versus both eye data was provided in terms of "simple CSCR" or "complex CSCR" (kappa value = 0.77 and 0.87, p < 0.001, and kappa value = 0.85 and 0.76, p < 0.001, respectively). Forty-three eyes (10.55%) showed discrepancy in classification between observers for individual eyes, whereas only 13 eyes (6.53%) showed discrepancy between observers when both eye data was provided. CONCLUSION: We conclude that fellow eye information was helpful in solving diagnostic dilemmas and reached 85% consensus in the diagnosis of CSCR between the observers. We found that information of fellow eyes led to a discrepancy only in 6.53% cases with 2.42% cases that had a controversial diagnosis of CSCR. Multimodal imaging-based CSCR classification provides objective approach to diagnose and classify CSCR.


Subject(s)
Central Serous Chorioretinopathy , Central Serous Chorioretinopathy/diagnosis , Fluorescein Angiography/methods , Humans , Retina , Tomography, Optical Coherence/methods , Visual Acuity
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