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INTRODUCTION: Retinitis pigmentosa (RP) is a chronic progressive disease causing loss of visual acuity and ultimately blindness. This visual impairment can contribute to psychiatric comorbidity and worse overall quality of life (QOL). Our goal was to assess the relationship between the severity of disease for people with RP and QOL as it pertains to mental health, social support, disability resources, and financial factors. METHODS: This was a survey study conducted from June 2021 to February 2022 including 38 people with RP. QOL was assessed through a survey questionnaire focusing specifically on demographics, visual function, family, employment, social support, and mental health/well-being. Statistical analysis was conducted using a χ2 test for significance. RESULTS: A best corrected visual acuity (BCVA) of less than 20/200 (p = 0.0285) and living alone (p = 0.0358) were both statistically significant independent risk factors for experiencing depressive symptoms. Highest education level attained and unemployment rate were not found to be related to the development of depressive symptoms. Subjects had a higher unemployment rate (64% vs. US rate of 3.6%) and a high likelihood of reporting depressive symptoms (47.4%). CONCLUSION: People with RP are more likely to be unemployed and to develop depressive symptoms when compared to the general population. Similar to previous studies' findings, those with a BCVA of less than 20/200 were statistically more likely to experience depressive symptoms; living alone is a novel risk factor that is also associated with the presence of depressive symptoms. Contrary to prior findings, highest education level and unemployment status were found not to be related to the development of depressive symptoms. These patients may benefit from regular depression screenings and optional establishment of care with a psychiatrist or psychologist if they live alone or their BCVA is 20/200 or worse.
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Calidad de Vida , Retinitis Pigmentosa , Agudeza Visual , Humanos , Retinitis Pigmentosa/psicología , Retinitis Pigmentosa/epidemiología , Retinitis Pigmentosa/complicaciones , Masculino , Femenino , Persona de Mediana Edad , Adulto , Encuestas y Cuestionarios , AncianoRESUMEN
PURPOSE: To report visual acuity (VA) outcomes, intraoperative and postoperative complications of isolated cataract surgery in eyes with retinitis pigmentosa (RP), compared with non-RP-affected eyes. DESIGN: Retrospective clinical cohort study. METHODS: A total of 113,389 eyes underwent cataract surgery between July 2003 and March 2015 at 8 clinical sites in the United Kingdom. Eyes with RP as the only comorbid pathology and eyes without any ocular comorbidities (controls) undergoing cataract surgery were compared. VA at 4 to 12 weeks postoperatively and rates of intraoperative and postoperative complications are reported. RESULTS: Seventy-two eyes had RP. The mean age in the RP group was 57 ± 15 compared to 75 ± 10 in controls (P < .001). Females represented 46% of RP cases and 60% of controls (P = .06). Preoperative VA (mean LogMAR = 1.03 vs 0.59, P < .001) and postoperative VA (0.71 vs 0.14, P < .001) were worse in RP group. The mean VA gain was 0.25 ± 0.60 LogMAR in RP vs 0.43 ± 0.48 LogMAR in controls (P < .001). There were no significant differences in the rate of intraoperative pupil expansion use, posterior capsular tears, or zonular dialysis. Postoperative cystoid macular edema developed in 6.9% of RP eyes and 1% of controls (P < .001). The need for IOL repositioning or exchange was not statistically different between the two groups. CONCLUSION: Cataract surgery can improve vision in eyes with RP and cataract. Intraoperative complications were similar to control eyes; however, RP eyes experienced more frequent postoperative cystoid macular edema.
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Complicaciones Intraoperatorias , Implantación de Lentes Intraoculares , Complicaciones Posoperatorias , Retinitis Pigmentosa , Agudeza Visual , Humanos , Retinitis Pigmentosa/fisiopatología , Retinitis Pigmentosa/complicaciones , Retinitis Pigmentosa/cirugía , Femenino , Agudeza Visual/fisiología , Masculino , Estudios Retrospectivos , Persona de Mediana Edad , Anciano , Bases de Datos Factuales , Adulto , Resultado del Tratamiento , Extracción de Catarata , Catarata/complicaciones , Catarata/fisiopatología , Anciano de 80 o más Años , Facoemulsificación , Reino Unido/epidemiologíaRESUMEN
PURPOSE: To compare within-subject efficacy and safety of intravitreal dexamethasone implant and topical carbonic anhydrase inhibitors in the treatment of retinitis pigmentosa-related cystoid macular edema. METHODS: Patients with bilateral retinitis pigmentosa-related cystoid macular edema were treated with intravitreal dexamethasone implant in one eye and topical carbonic anhydrase inhibitors in the contralateral eye. The primary endpoint was a change in central macular thickness. Secondary endpoints were changes in best-corrected visual acuity and microperimetric central retinal sensitivity. Intraocular pressure and other ocular complications were evaluated for safety assessment. RESULTS: Nine patients were recruited for this 12-month follow-up study. Central macular thickness was significantly lower in intravitreal dexamethasone implant-treated eyes than in topical carbonic anhydrase inhibitors-treated eyes at Months 1 and 7, whereas mean best-corrected visual acuity was better in eyes treated with topical carbonic anhydrase inhibitors at Month 12 (borderline significant P = 0.0510). There was no difference in microperimetric sensitivity between the two treatments. Three patients developed ocular hypertension after intravitreal dexamethasone implant. Intravitreal dexamethasone implant showed an effect on the contralateral eye in five of nine patients. CONCLUSION: Intravitreal dexamethasone implant was more effective than topical carbonic anhydrase inhibitors in reducing retinitis pigmentosa-related cystoid macular edema 1 month after treatment. Corticosteroids can play a key role in the management of retinitis pigmentosa-related cystoid macular edema; however, their routes, timing, and modes of administration should be further explored.
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Inhibidores de Anhidrasa Carbónica , Dexametasona , Implantes de Medicamentos , Glucocorticoides , Edema Macular , Retinitis Pigmentosa , Tomografía de Coherencia Óptica , Agudeza Visual , Humanos , Retinitis Pigmentosa/tratamiento farmacológico , Retinitis Pigmentosa/fisiopatología , Retinitis Pigmentosa/complicaciones , Retinitis Pigmentosa/diagnóstico , Edema Macular/tratamiento farmacológico , Edema Macular/etiología , Edema Macular/diagnóstico , Edema Macular/fisiopatología , Inhibidores de Anhidrasa Carbónica/administración & dosificación , Inhibidores de Anhidrasa Carbónica/uso terapéutico , Dexametasona/administración & dosificación , Estudios Prospectivos , Femenino , Masculino , Proyectos Piloto , Glucocorticoides/administración & dosificación , Persona de Mediana Edad , Adulto , Estudios de Seguimiento , Inyecciones Intravítreas , Anciano , Resultado del Tratamiento , Administración TópicaRESUMEN
OBJECTIVE: Cystoid macular edema (CME) in retinitis pigmentosa (RP) is an important complication causing visual dysfunction. We investigated the effect of CME on photoreceptors in RP patients with previous or current CME, using an adaptive optics (AO) fundus camera. METHODS: We retrospectively observed the CME and ellipsoid zone (EZ) length (average of horizontal and vertical sections) by optical coherence tomography. The density and regularity of the arrangement of photoreceptor cells (Voronoi analysis) were examined at four points around 1.5° from superior to inferior and temporal to nasal. We also performed a multivariate analysis using CME duration, central macular thickness and transversal length of CME. RESULTS: We evaluated 18 patients with previous or current CME (18 eyes; age, 48.7 ± 15.6 years) and 24 patients without previous or current CME (24 eyes; age, 46.0 ± 14.5 years). There were no significant differences in age, logMAR visual acuity, or EZ length. In groups with and without CME, cell density was 11967 ± 3148 and 16239 ± 2935 cells/mm2, and sequence regularity was 85.5 ± 3.4% and 88.5 ± 2.8%, respectively; both parameters were significantly different. The correlation between photoreceptor density and age was more negative in group with CME. The CME group tended toward greater reductions in duration of CME. CONCLUSION: Complications of CME in RP patients may lead to a decrease in photoreceptor density and regularity. Additionally, a longer duration of CME may result in a greater reduction in photoreceptor density.
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Edema Macular , Retinitis Pigmentosa , Humanos , Adulto , Persona de Mediana Edad , Edema Macular/complicaciones , Estudios Retrospectivos , Retinitis Pigmentosa/complicaciones , Retinitis Pigmentosa/diagnóstico por imagen , Fóvea Central , Tomografía de Coherencia Óptica/métodos , Células FotorreceptorasRESUMEN
Inherited retinal dystrophies (IRD) are the leading cause of legal blindness in the working population. Cystic macular edema (CME) is one of the treatable causes of visual loss, affecting up to 50% of the patients. A bibliographic review has been carried out combining "inherited retinal dystrophy", "retinitis pigmentosa", "macular oedema" and a diagnostic-therapeutic protocol according to the levels of evidence and recommendations of the "US Agency for Healthcare Research and Quality". This protocol has been discussed in the monthly meetings of the XAREA DHR group with the participation of more than 25 ophthalmologists, creating a consensus document. The etiology of CME is multifactorial: dysfunction of the blood-retinal barrier, retinal pigment epithelium, and Müller cells, inflammation, and vitreous traction. OCT is the test of choice for the diagnosis and follow-up of CME associated with IRD. The drugs with the highest degree of scientific evidence are carbonic anhydrase inhibitors (IAC). Intravitreal corticosteroids, anti-VEGF, and vitrectomy with peeling of the internal limiting membrane do not have sufficient evidence. A treatment scheme is proposed for the CME in IRD in adults, another for pediatric patients and another for IRD and cataract surgery. Oral and topical IACs are effective in the treatment of CME secondary to IRD. Treatment with corticosteroids, anti-VEGF, and vitrectomy are second-line options. Randomized clinical trials are required to establish the therapeutic scale in these patients.
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Edema Macular , Distrofias Retinianas , Retinitis Pigmentosa , Estados Unidos , Adulto , Humanos , Niño , Edema Macular/etiología , Edema Macular/terapia , Retinitis Pigmentosa/complicaciones , Retina , Distrofias Retinianas/complicaciones , Distrofias Retinianas/terapia , Corticoesteroides/uso terapéuticoRESUMEN
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.
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Desprendimiento de Retina , Retinitis Pigmentosa , Cirugía Vitreorretiniana , Humanos , Desprendimiento de Retina/diagnóstico , Desprendimiento de Retina/cirugía , Estudios Retrospectivos , Retinitis Pigmentosa/complicaciones , Retinitis Pigmentosa/diagnóstico , Retinitis Pigmentosa/cirugía , RetinaRESUMEN
PURPOSE: To report the genotypes and clinical features of RHO-associated retinitis pigmentosa (RHO-RP) in the Kyushu region of Japan. STUDY DESIGN: Retrospective, single-center study. METHODS: Sixteen RP patients with pathogenic RHO variants seen at Kyushu University Hospital were investigated. Clinical data including age, best-corrected visual acuity (BCVA) in logarithm of the minimum angle of resolution (logMAR) units, visual field, fundus photography, and optical coherence tomography were retrospectively obtained. Visual outcomes were compared between classical and sector phenotypes and among genetic variants. RESULTS: The mean age at the first visit was 54.0 ± 15.7 years, with a mean follow-up of 7.6 ± 4.0 years. Fourteen patients (87.5%) showed the classical RP phenotype, of whom four were associated with p.[Pro23Leu] and two had p.[Pro347Leu] variants. In addition, two patients with the sector phenotype harbored p.[Ala164Val] variants. Among the classical RHO-RP patients, the mean BCVA decreased from 0.60 to 1.08 logMAR over the follow-up period (7.4 ± 4.1 years) whereas BCVA was preserved at 0.04 logMAR in sector RHO-RP patients (9.0 ± 3.0 years). Genotype-to-phenotype analysis demonstrated that p.[Pro347Leu] was associated with severe vision loss at an earlier age. Macular complications such as epiretinal membrane and cystoid macular edema were observed in 5 classical RHO-RP patients. CONCLUSION: p.[Pro23Leu], but not p.[Pro23His], was a frequent variant causing RHO-RP in the Kyushu region of Japan. As reported in previous studies, patients with the p.[Pro347Leu] variant showed a more severe phenotype, and variants causing sector RHO-RP were associated with a good prognosis.
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Retinitis Pigmentosa , Rodopsina , Adulto , Anciano , Humanos , Persona de Mediana Edad , Genotipo , Japón/epidemiología , Retinitis Pigmentosa/diagnóstico , Retinitis Pigmentosa/genética , Retinitis Pigmentosa/complicaciones , Estudios Retrospectivos , Tomografía de Coherencia Óptica/métodos , Campos Visuales , Rodopsina/genéticaRESUMEN
Typical retinitis pigmentosa (RP) may not be the only retinal phenotype encountered in ataxia with vitamin E deficiency (AVED). The following short case series describes a novel form of retinopathy in AVED. We describe two patients with AVED belonging to the same consanguineous sibship. Both presented an unusual retinopathy consisting of scattered, multifocal, nummular, hyperautofluorescent atrophic retinal patches. The retinopathy remained stable under vitamin E supplementation. We hypothesize these changes to be the result of arrested AVED-related RP following early supplementation with α-tocopherol acetate.
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Retinitis Pigmentosa , Deficiencia de Vitamina E , Humanos , Proteínas Portadoras/genética , Ataxia/complicaciones , Ataxia/genética , Deficiencia de Vitamina E/complicaciones , Deficiencia de Vitamina E/genética , Retinitis Pigmentosa/complicaciones , Retinitis Pigmentosa/genética , Linaje , MutaciónRESUMEN
PURPOSE: High myopia can occur as a single or syndromic condition. The aim of this study was to evaluate the refractive error and myopic maculopathy in patients with X-linked retinopathies. METHODS: Whole exome sequencing, Sanger sequencing, and comprehensive ocular examinations were performed in patients with X-linked retinopathies. RESULTS: A total of 17 patients were recruited, including six with CACNA1F, seven with RPGR, three with NYX, and one with OPN1MW mutations. The diagnoses were congenital stationary night blindness (6), cone-rod dystrophy (4), retinitis pigmentosa (4), achromatopsia (1), Leber congenital amaurosis (1), and myopia (1). Myopia was present in 88.2% patients, and 64.7% patients had high myopia. Gene analysis showed that high myopia was present in 80% patients with CACNA1F, 100% patients with NYX, and 57.1% patients with RPGR mutations. In the ATN classification, 64.7% of the patients were A1T0N0 and 35.3% were A0T0N0. The refractive errors progressed over time, even in patients with congenital stationary night blindness. Two females with heterozygous de novo RPGR mutations presented with retinitis pigmentosa or cone rod dystrophy combined with high myopia. CONCLUSION: High myopia is common in patients with X-linked retinopathies, and myopic maculopathy was only mild atrophy without traction and neovascularization.
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Distrofias de Conos y Bastones , Enfermedades Hereditarias del Ojo , Degeneración Macular , Miopía , Errores de Refracción , Retinitis Pigmentosa , Femenino , Humanos , Enfermedades Hereditarias del Ojo/genética , Miopía/complicaciones , Miopía/diagnóstico , Miopía/genética , Retinitis Pigmentosa/complicaciones , Retinitis Pigmentosa/diagnóstico , Retinitis Pigmentosa/genética , Proteínas del Ojo/genéticaRESUMEN
Our brain undergoes significant alteration in response to blindness. Understanding these neuroplastic changes and finding reliable methods for quantification of such reorganization is consequential for devising optimum sight restoration therapies and clinical rehabilitation. In recent years, graph theory measures have been applied to brain connectivity, but few studies have examined blindness-induced cortical alterations using these methods. In this study, we investigated alterations in key global and local measures of functional plasticity in the brain network after visual deprivation. Four resting-state functional MRI runs from 10 sighted and 10 blind subjects, with severe retinitis pigmentosa, provided data for our analysis. The whole-brain ROI-ROI resting-state functional connectivity (rsFC) matrices were created for all subjects. Using the resulting rsFC matrices, the global density and efficiency were extracted for the whole brain and the visual system. Additionally, weighted degree, as a local metric, was investigated for all the nodes in the functional brain network. Our results revealed a statistically significant decrease in global density and efficiency of the visual system and weighted degree for lower visual areas, following visual deprivation in the blind group. The explored network measures can serve as tools to gauge functional neuroplasticity following blindness, as a complement to the behavioral indices. Future investigation with a larger number of test subjects for this rare condition can enable correlation analysis with patients' characteristics and further verify the application of these metrics as biomarkers of brain reorganization following vision loss.
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Mapeo Encefálico , Retinitis Pigmentosa , Humanos , Mapeo Encefálico/métodos , Encéfalo/fisiología , Ceguera , Visión Ocular , Retinitis Pigmentosa/complicacionesRESUMEN
Purpose: To determine if circulating antiretinal antibodies (ARAs) differ between patients affected by retinitis pigmentosa (RP) and control participants and to assess whether ARAs are associated with clinical outcomes in patients with RP. Methods: Cross-sectional study involving a group of patients clinically diagnosed with RP and a control group of healthy participants. Serum autoantibodies against enolase, heat shock protein 70 (HSP70), and carbonic anhydrase II (CAII) were tested in all participants using Jess capillary Western blot. We compared ARA prevalence between the RP and control groups and investigated the association of serum ARA positivity with macular edema and vitreomacular disorders in patients affected by RP. Results: Thirty-six patients affected by RP and a control group of 39 healthy individuals were included. Overall, at least one ARA positivity was detected in 89% and 80% of participants in the RP and control groups, respectively. We observed a similar prevalence of anti-CAII and anti-enolase ARA between patients and controls (P = 0.87 and P = 0.35, respectively). Sera from patients with RP tested positive for anti-HSP70 ARAs more frequently than those from controls (53% vs. 36%), albeit without reaching statistical significance (P = 0.29). Among the 72 eyes with RP, 25% presented with macular edema (most often bilateral) and 33% with epiretinal membrane and/or lamellar macular hole. None of the three ARAs was associated with an increased risk of any macular complications in eyes affected by RP (all P > 0.05). Conclusions: The prevalence of circulating ARAs against enolase, HSP70, and CAII is similar between patients affected by RP and healthy individuals. Our results provide evidence against the association of ARAs with macular edema and vitreomacular interface disorders in RP.
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Edema Macular , Retinitis Pigmentosa , Humanos , Edema Macular/diagnóstico , Edema Macular/etiología , Estudios Transversales , Retinitis Pigmentosa/diagnóstico , Retinitis Pigmentosa/complicaciones , Retina , Fosfopiruvato Hidratasa , Tomografía de Coherencia Óptica/métodosRESUMEN
RATIONALE: Exudative retinal detachment with macular edema is one of the complications of retinitis pigmentosa (RP). In this report, we present a case who treated with intravitreal injection of anti-vascular endothelial growth factor (anti-VEGF) in RP-related exudative retinal detachment and subsequently improved with favorable outcome. PATIENT CONCERN: A 49-year-old man, with a history of RP, had persistent blurred vision and was newly diagnosed with bilateral shallow exudative retinal detachment and macular edema. DIAGNOSIS: Fluorescein angiography showed bilateral diffuse dye leakage with macular pooling, and systemic survey excluded the possibility of infection or autoimmune disease. INTERVENTIONS: The patient was treated with intravitreal injection of aflibercept, one of the anti-VEGF agents, for bilateral eyes. Recurrent exudative retinal detachment and macular edema were noted, and repeated intravitreal injections of aflibercept in bilateral eyes were then arranged. Subsequently, bilateral macular edema and exudative retinal detachment subsided again, and the treatment course lasted for approximately 1 year. OUTCOMES: After 1 year, the exudative retinal detachment with macular edema was much improved. In the meanwhile, visual functional improvement was also achieved. LESSONS: This case illustrated the possibility of intravitreal injection of anti-VEGF therapy for the treatment of this rare complication of RP, and it may be a newly explored alternative treatment.
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Edema Macular , Desprendimiento de Retina , Retinitis Pigmentosa , Masculino , Humanos , Persona de Mediana Edad , Edema Macular/tratamiento farmacológico , Edema Macular/etiología , Edema Macular/diagnóstico , Inhibidores de la Angiogénesis/uso terapéutico , Desprendimiento de Retina/etiología , Desprendimiento de Retina/complicaciones , Receptores de Factores de Crecimiento Endotelial Vascular/uso terapéutico , Proteínas Recombinantes de Fusión/uso terapéutico , Retinitis Pigmentosa/complicaciones , Retinitis Pigmentosa/tratamiento farmacológico , Inyecciones IntravítreasRESUMEN
BACKGROUND: To report the ocular characteristics and management of three cases of retinitis pigmentosa (RP) concurrent primary angle closure glaucoma (PACG). CASE PRESENTATION: Three middle-aged patients presenting with diminished vision, high intraocular pressure (IOP), and typical fundus manifestations of RP were clinically evaluated. The individualized treatment was based on the ocular conditions of each case. A novel genetic alteration in ZNF408 was identified in one patient. Two patients with short-axial eyes received unilateral combined trabeculectomy, cataract surgery, and Irido-zonulo-hyaloid-vitrectomy. One of them had a subluxated lens, managed with a capsular tension ring implantation. Their contralateral eyes, respectively, underwent laser peripheral iridotomy (LPI) and transscleral cyclophotocoagulation. The third patient underwent bilaterally combined laser peripheral iridoplasty, LPI, and medication. Ultimately, all patients achieved the target IOP during a two-year follow-up. CONCLUSION: Young patients with RP may have a risk of developing angle closure glaucoma, and conversely, patients with angle closure glaucoma at younger age should be aware of the presence of RP. Therefore, routine gonioscopy and IOP monitoring are required for RP patients, and detailed fundus examinations are warranted for young PACG patients.
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Glaucoma de Ángulo Cerrado , Terapia por Láser , Retinitis Pigmentosa , Persona de Mediana Edad , Humanos , Glaucoma de Ángulo Cerrado/complicaciones , Glaucoma de Ángulo Cerrado/diagnóstico , Glaucoma de Ángulo Cerrado/cirugía , Iridectomía , Iris/cirugía , Resultado del Tratamiento , Retinitis Pigmentosa/complicaciones , Retinitis Pigmentosa/diagnóstico , Presión Intraocular , Proteínas de Unión al ADN , Factores de TranscripciónRESUMEN
BACKGROUND: Microophthalmos or 'dwarf eye' is characterized by an axial length 2 standard deviation less than age-matched controls. It is classified into nanophthalmos, relative anterior microphthalmos, and posterior microphthalmos based on the anterior segment: posterior segment ratio. Nanophthalmos can occur in association with optic disc drusen, foveoschisis, and retinitis pigmentosa, as an autosomal recessive syndrome linked to mutations in the MFRP gene. We report a case of bilateral nanophthalmos and pigmentary retinopathy with angle closure glaucoma and optic disc pit in one eye. We believe this to be the first case presenting with optic disc pit in association with nanophthalmos. CASE PRESENTATION: A 56-year-old female presented with bilateral small eyes, high hypermetropia, shallow anterior chamber depth, increased lens thickness, mid-peripheral retinal flecks, and macular edema. She also had high intraocular pressure in the right eye, with a disc cupping of 0.9 with an Optic disc pit. The macular edema in the right eye was found to occur in association with the Optic disc pit, whereas, in the left eye, it was associated with intra-retinal hemorrhages and diagnosed as macular branch retinal vein occlusion secondary to hypertension. She was started on anti-glaucoma medications in both eyes and planned for Anti-VEGF injection in the left eye. CONCLUSION: This case report is unique as it reports an association of Nanophthalmos with Optic Disc pit, with an associated angle closure glaucoma in the same eye, an association which has never been previously reported in the literature.
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Anomalías del Ojo , Glaucoma de Ángulo Cerrado , Edema Macular , Microftalmía , Disco Óptico , Retinitis Pigmentosa , Femenino , Humanos , Persona de Mediana Edad , Microftalmía/complicaciones , Microftalmía/diagnóstico , Glaucoma de Ángulo Cerrado/complicaciones , Glaucoma de Ángulo Cerrado/diagnóstico , Anomalías del Ojo/complicaciones , Anomalías del Ojo/diagnóstico , Retinitis Pigmentosa/complicaciones , Retinitis Pigmentosa/diagnóstico , Proteínas de la MembranaRESUMEN
Macular edema (ME), the accumulation of intraretinal fluid in the macula, is a common sight affecting sequelae of retinitis pigmentosa (RP). However, it is unclear why some patients develop ME, and others do not. This study aims to identify associations between clinical-genetic factors in RP with ME. Patients with clinically confirmed RP cases were identified from the inherited retinal disease database at a large tertiary referral academic center. Demographic and genetic testing findings were noted. Additionally, optical coherence tomography volume scans were graded using a validated grading system. One hundred and six patients (73.1%) were found to have ME in at least one eye (OD = 88, mean = 37.9%, OS = 98, mean = 31.7%). Structurally, the presence of epiretinal membrane (ERM) (p < 0.007) and vitreo-macular traction (VMT) (p < 0.003) were significantly associated with ME. Additionally, X-linked (p < 0.032) and autosomal dominant inheritance (p < 0.039) demonstrated a significant association with ME, with RP1 (p < 0.045) and EYS (p < 0.017) pathogenic variants also significantly associated with ME. This study, in a large cohort of RP patients, confirms previous retinal structural associations for ME in RP and identifies potential new genetic associations.
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Mácula Lútea , Edema Macular , Enfermedades de la Retina , Retinitis Pigmentosa , Humanos , Edema Macular/genética , Retinitis Pigmentosa/complicaciones , Retinitis Pigmentosa/genética , Retina/diagnóstico por imagen , Proteínas del OjoRESUMEN
PURPOSE: We describe the unusual clinical presentation of a 33-year-old woman subsequently identified as a carrier of RP2-associated X-linked retinitis pigmentosa. METHODS: Case report. RESULTS: A 33-year-old woman without a known family history of retinal disease presented with unilateral reduced visual acuity and central scotoma in the left eye. Examination showed underlying macular atrophy in the left eye and a bilateral tapetal-like reflex. Full-field electroretinogram was abnormal in the left eye but normal in the right eye. Notable findings on wide-field imaging included bilateral peripheral vascular leakage on fluorescein angiography and a bilaterally symmetric radial pattern of hyperfluorescence on fundus autofluorescence. Genetic testing demonstrated a pathogenic variant in the gene RP2 confirming that she was a carrier of X-linked retinitis pigmentosa. CONCLUSION: We describe clinical features of the carrier state of RP2-XLRP and expand potential findings to include peripheral vascular leakage. This case highlights the importance of awareness of the carrier state, particularly if a family history cannot be provided.
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Enfermedades de la Retina , Retinitis Pigmentosa , Femenino , Humanos , Adulto , Portador Sano , Fondo de Ojo , Retinitis Pigmentosa/complicaciones , Retinitis Pigmentosa/diagnóstico , Atrofia , Proteínas de la Membrana , Proteínas de Unión al GTPRESUMEN
PURPOSE: To report a case of polypoidal choroidal vasculopathy associated with sector retinitis pigmentosa. METHODS: Case report. RESULTS: A 63-years-old woman presented with complaints of having painless progressive reduction of vision in the left eye (LE) for the past 6 months. On examination, her best-corrected visual acuity was 20/20 in the right eye and 20/125 in the LE. Based on fundus examination and multimodal imaging findings, both eyes were diagnosed to have sector retinitis pigmentosa, and an associated active extramacular polypoidal choroidal vasculopathy was seen in the LE. Spectral-domain optical coherence tomography also revealed choroidal thinning in both eyes. Patient underwent bevacizumab injection in the LE. At 1-month posttreatment, her best-corrected visual acuity remained stable in the LE, and spectral-domain optical coherence tomography showed reduction in subretinal fluid and size of the polypoidal lesion. CONCLUSION: Polypoidal choroidal vasculopathy, a pachychoroid disease, could occur in association with retinitis pigmentosa, in the setting of thin choroids, and multimodal imaging is important to differentiate it from Type-1 macular neovascularization.