Retinal Pigment Epithelium Changes Research Articles

Type 1 and type 2 torpedo maculopathy.

To analyze torpedo maculopathy (TM) and to report the characteristics of the disease. Retrospective study. The review of a database for clinical diagnosis identified eight patients with TM lesions in the retina between 2016 and 2022. Multimodal imaging was used to analyze the cases. All cases were unilateral, asymptomatic, and hypopigmented. They were associated by surrounding hyperpigmented retinal pigment epithelium changes to varying degrees. All lesions were located in the temporal retina on the horizontal axis, pointing towards the fovea, except for one patient with a lesion inferior to the fovea. Optical coherence tomography imaging revealed a normal inner retina in all eyes. In the area of the TM lesion, attenuation of the interdigitation zone was seen in mild cases (three cases). All other five patients had thinning of the outer nuclear layer and loss of ellipsoid zone and interdigitation zone of the TM lesion. Four of these cases had a subretinal cavitation/cleft, and two of them additionally an inner choroidal excavation. No patient had any sign of choroidal neovascularization. The average age for patients with type 1 TM was 18years and for type 2 TM 16.5years. In this large case series, we could not detect an age difference between the different types of the TM. Contrary to previous discussions, type 2 TM can also occur in young patients.

Ultrastructural changes in the rat retina in the presence of long-term opioid exposure

Purpose: To determine the features of the untrastructural reorganization in the rat retina by the end of week 4 and week 6 of experimental opioid exposure. Material and Methods: Forty-eight adult male albino rats (weight, 200-250 g; age, 4.5 months) were used in this study. They received nalbuphine hydrochloride intramuscularly daily for 42 days. Particularly, the drug was administered daily at a dose of 0.212 mg/kg for weeks 1 and 2, 0.225 mg/kg for weeks 3 and 4, and 0.252 mg/kg for weeks 5 and 6. In this way, we experimentally created the conditions of chronic opioid exposure. Animals were divided into three groups. Group 1 (19 animals) received nalbuphine for 28 days, and group 2 (19 animals), for 42 days. Group 3 (control group) comprised 10 animals. Of these, 5 animals were treated with normal saline at a dose of 0.22 mg/kg intramuscularly daily for 28 days, and the rest were treated in a similar manner for 42 days. Transmission electron microscopy studies of the rat retina were conducted in a routine manner. Results: By the end of week 4 of experimental opioid exposure, there was an increase in the number of retinal microvessels with signs of hyperemia and degenerative changes in retinal pigment epithelium (RPE) cells, increase in the destruction of membranous discs of photoreceptor outer segments, necrobiotic changes in the nuclei of individual photoreceptors, axonal degeneration in the outer and inner plexiform layers, degenerative changes in retinal horizontal neurons, and the appearance of necrotic structural changes in the cytoplasm of bipolar and amacrine cells. By the end of week 6, there was a further increase in hyperemia of retinal vessels and degenerative and necrotic changes in individual RPE cells and photoreceptor outer segments. In addition, we observed destruction and shortening of mitochondrial cristae of photoreceptor inner segments, necrotic nuclear changes in individual photoreceptors, degeneration of axons of the outer and inner plexiform layers, degenerative and necrotic changes in bipolar and amacrine cells, hypertrophic Müller cell processes, degeneration of ganglion cells, and vascular hyperemia and moderate perivascular edema in the outer and inner plexiform layers. Conclusion: Therefore, in the current rat study, after a 4-week exposure to daily nalbuphine injections at a dose ranging 0.212 to 0.253 mg/kg, there was ultrastuctural evidence of destructive processes in the RPE and photoreceptor outer segments, axonal degeneration in the outer and inner plexiform layers, degenerative and necrotic changes in bipolar and amacrine cells, hypertrophic Müller cell processes, ganglion cell degeneration and hyperemia due to an impaired retinal microcirculatory ultrastructure. At week 6 of the experiment, there was evidence of increased destructive and degenerative processes in structural components of the retina.

Bilateral choroidal haemangioma in an otherwise normal middle aged female

Circumscribed choroidal hemangioma is a rare benign vascular tumor. It is of two types, circumsribed and diffuse. Circumscribed choroidal hemangioma is a well demarcated solitary lesion, usually situated posterior to equator, while diffuse have ill defined thickening of choroid involving more than one zone or quadrant. Patient may present with progressive diminution of vision, metamorphopsia, floaters and visual field defect. The visual symptoms are because of associated subretinal fluid, cystoid macular edema, and in long standing cases, retinal pigment epithelium changes, subretinal fibrosis and retinoschisis. It must be distinguished from amelanotic melanoma and choroidal metastasis. Investigation such as ultrasound, optic coherence tomography, fundus fluorescein angiography, indocyanin green angiography can be used to confirm the diagnosis. Multiple treatment options like transpupillary thermotherapy, photodynamic therapy, plaque brachytherapy and external beam radiotherapy.

Multimodal Retinal Imaging Findings in Hardikar Syndrome.

To describe the syndromic, clinical, and retinal findings of a patient with an extremely-rare genetic condition known as Hardikar Syndrome (HS) with presentation of optical coherence tomography (OCT), fundus autofluorescence (FAF), fluorescein angiographic (FA), and indocyanine green angiographic (ICG) findings. Clinical course was detailed and followed over time with examinations and multimodal imaging. A 17-year-old patient with HS was referred for possible retinitis pigmentosa. Dilated fundoscopic examination revealed large, multifocal cauliform patches of chorioretinal retinal pigment epithelium (RPE) changes with RPE drop-out involving the macula and periphery in both eyes. Additionally, an inactive choroidal neovascular membrane (CNVM) was present in the left eye. Multimodal imaging with OCT, FAF, FA and ICG correlated with the clinical findings of focal patches of chorioretinal degeneration in both eyes. Additionally, an anomalous finding of the superior retinal arterial vessels filling in tandem with the choroidal was present in the left eye. The patient's clinical findings were consistent with HS, and genetic testing with whole exome sequencing revealed a pathogenic mutation in the MED12 gene, confirming diagnosis. HS is associated with RPE degeneration, creating focal patches of pigmentary chorioretinal atrophic lesions. Vision loss can occur due to the development of CNVMs. We recommend close evaluation and follow-up for HS patients with multimodal retinal imaging.

Decreased perifoveal ganglion cell complex thickness - a first sign for macular damage in patients using hydroxychloroquine.

Aim: To examine ganglion cell complex (GCC) thickness detected by optical coherence tomography (OCT) in patients using hydroxychloroquine (HCQ), without any structural and functional macular changes to evaluate the initial symptoms of macular toxicity for early diagnosis before clinical evaluation. Methods: Eighty eyes of forty patients (Group 1) and forty eyes of twenty healthy volunteer persons (Group 2) were included in the study. Detailed ophthalmologic and mydriatic fundus examination were applied to all patients and volunteers (controls). Spectral domain OCT, visual field (VF) and color vision test were performed. Measurements of macula thickness, GCC thickness (involving nerve fiber layer, ganglion cell layer and inner plexiform layer) and peripapillary retinal nerve fiber layer (RNFL) were performed with OCT. Patients with retinal pigment epithelial changes, VF paracentral scotoma and defected color vision were excluded from the planned study. Results: Perifoveal GCC layer thickness in all quadrants was significantly thinner in group 1 compared to group 2 (p=0.017, p=0.001, p=0.019, p=0.001). The mean global inferior hemifield and nasal quadrant RNFL thickness were lower than in the control groups (p=0,012, p=0,009, p=0,005, respectively). Conclusion: Changes in the thickness of nerve fiber layer and ganglion cell layer detected by optical coherence tomography can be thought to be used as a diagnostic aid for the early diagnosis of hydroxychloroquine-toxic maculopathy Abbreviations: GCC = Ganglion cell complex, OCT = Optical coherence tomography, HCQ = Hydroxychloroquine, BCVA = Best-corrected visual acuity, IOP = Intraocular pressure, VF = Visual field, RNFL = Retinal nerve fiber layer, SD OCT = Spectral-domain optical coherence tomography, mfERG = Multifocal electroretinogram, FAF = Fundus autofluorescence, IS/ OS = Inner segment-outer segment junction, SITA = Swedish Interactive Threshold Algorithm, RA = Rheumatoid arthritis, SLE = Systemic lupus erythematosus, SS = Sjogren syndrome.

Central Serous Chorioretinopathy by Autofluorescence, Enface and SLO-Retromode Imaging.

The aim of our study was to investigate the clinical features of central serous chorioretinopathy (CSC) with autofluorescence (AF), retromode (RM), and enface imaging. This retrospective study was conducted at Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome (Italy), between September and December 2022. Each patient underwent a complete ophthalmological examination, which included optical coherence tomography (OCT), enface image analysis, AF, and RM imaging. We further evaluated the presence and area of extension of serous retinal detachment and retinal pigment epithelium (RPE) atrophy through AF, RM, and enface imaging. We included 32 eyes from 27 patients (mean age: 52.7 ± 13.3 years). The median AF area was 19.5 mm2 (IQR 6.1-29.3), while the median RM area was 12.3 mm2 (IQR 8.1-30.8), and the median enface area was 9.3 mm2 (IQR 4.8-18.6). RPE atrophy was diagnosed in 26 cases (81.3%) with RM imaging and in 75% of cases with AF. No difference emerged between AF and RM analysis in the detection of central serous detachment in CSC. However, RM imaging showed a high specificity (91.7%) and negative predictive value (84.6%) to detect RPE changes when compared to the AF standard-of-care technique. Thus, RM imaging could be considered an adjunctive imaging method in CSC.

Proteome changes in a human retinal pigment epithelial cell line during oxidative stress and following antioxidant treatment.

Age related macular degeneration (AMD) is the most common cause of blindness in the elderly. Oxidative stress contributes to retinal pigment epithelium (RPE) dysfunction and cell death thereby leading to AMD. Using improved RPE cell model systems, such as human telomerase transcriptase-overexpressing (hTERT) RPE cells (hTERT-RPE), pathophysiological changes in RPE during oxidative stress can be better understood. Using this model system, we identified changes in the expression of proteins involved in the cellular antioxidant responses after induction of oxidative stress. Some antioxidants such as vitamin E (tocopherols and tocotrienols) are powerful antioxidants that can reduce oxidative damage in cells. Alpha-tocopherol (α-Toc or αT) and gamma-tocopherol (γ-Toc or γT) are well-studied tocopherols, but signaling mechanisms underlying their respective cytoprotective properties may be distinct. Here, we determined what effect oxidative stress, induced by extracellularly applied tBHP in the presence and absence of αT and/or γT, has on the expression of antioxidant proteins and related signaling networks. Using proteomics approaches, we identified differential protein expression in cellular antioxidant response pathways during oxidative stress and after tocopherol treatment. We identified three groups of proteins based on biochemical function: glutathione metabolism/transfer, peroxidases and redox-sensitive proteins involved in cytoprotective signaling. We found that oxidative stress and tocopherol treatment resulted in unique changes in these three groups of antioxidant proteins indicate that αT and γT independently and by themselves can induce the expression of antioxidant proteins in RPE cells. These results provide novel rationales for potential therapeutic strategies to protect RPE cells from oxidative stress.

Randomized controlled trials in central serous chorioretinopathy: A review.

Central serous chorioretinopathy (CSCR), a common chorioretinal disease, presents with a myriad of manifestations. Acute CSCR presents with localized neurosensory detachment whereas chronic CSCR may show widespread retinal pigment epithelium (RPE) changes, chronic shallow subretinal fluid, andchoroidal neovascularization (CNV) suggestive of a variable natural history leading to suboptimal visual outcomes. Even though multiple treatment options including laser photocoagulation, photodynamic therapy, micropulse laser, anti-vascular endothelial growth factors, and systemic drugs (spironolactone, eplerenone, melatonin, mifepristone) are available, there isan absence of any standardized treatment protocol or gold standard treatment modality. Moreover, their performance compared to observation especially in acute CSCR is still debatable. Compared to other chorioretinal diseases such as age-related macular degeneration, diabetic retinopathy, diabetic macular oedema, and retinal vein occlusion, there is arelative dearth of randomized controlled trials in CSCR. Multiple inconsistencies including reliance on history of disease duration, variable inclusion criteria/disease descriptors/study endpoints, and availability of multiple treatment modalities lead to difficulties in designing RCTs. A consensus-based treatment protocol, therefore, is still elusive. We reviewed the literature and compiled the list of papers published to date, wherein we analyse and compare the inclusion criteria, imaging modalities, study endpoints, studyduration, andstudy results. Correcting these discrepancies and deficiencies will help standardize future study designs, facilitating a next step towarda standardized treatment protocol.

Long-Term Multimodal Imaging Analysis of Selective Retina Therapy Laser Lesions.

This study evaluates the long-term effects of selective retina therapy (SRT) on the retinal pigment epithelium (RPE) and neuroretina in patients with central serous chorioretinopathy. SRT was performed on 36 patients using a Nd:YLF-Laser at 527 nm (R:GEN®, Lutronic, Goyang-Si, Republic of Korea). A total of 994 titration spots were examined using up to three years' multimodal imaging. Leakage in fluorescein angiography (FA) was observed after SRT in 523 lesions and resolved after one month. SRT lesions were not visible clinically, but appeared as brightly reflective areas in infrared and multicolor images. Normal morphology was observed in optical coherence tomography (OCT) immediately after SRT. After one month, thickening of the RPE and interdigitation zone changes were seen and disappeared after 539 ± 308 days. No RPE atrophies occurred during the observation period. Decreased fundus autofluorescence (FAF) was mostly observed directly after SRT followed by increased FAF at one month, which faded over time. A significant decrease in the number of visible lesions in the FA and FAF was observed within the three-year follow-up. OCT findings are consistent with animal studies showing SRT-related defect closure by hypertrophy and migration of neighboring cells without RPE atrophy or photoreceptor damage. This suggests that SRT is a safe treatment option for macular diseases and does not lead to retinal atrophy.

Aging induces cell loss and a decline in phagosome processing in the mouse retinal pigment epithelium

Age-related macular degeneration (AMD) is a leading cause of irreversible vision loss and dysfunction in the retinal pigment epithelium (RPE) with age is known to contribute to disease development. The aim of this study was to investigate how the C57BL/6J mouse RPE changes with age. RPE structure was found to change with age and eccentricity, with cell size increasing, nuclei lost, and tight junctions altered in the peripheral retina. Phagocytosis of photoreceptor outer segments (POS) by the RPE was investigated using gene expression analysis and histology. RNA-Seq transcriptomic gene profiling of the RPE showed a downregulation of genes involved in phagosome processing and histological analysis showed a decline in phagosome-lysosome association in the aged tissue. In addition, failures in the autophagy pathway that modulates intracellular waste degradation were observed in the aged RPE tissue. These findings highlight that RPE cell loss and slowing of POS processing contribute to RPE dysfunction with age and may predispose the aging eye to AMD development.

Zinc Supplementation Induced Transcriptional Changes in Primary Human Retinal Pigment Epithelium: A Single-Cell RNA Sequencing Study to Understand Age-Related Macular Degeneration.

Zinc supplementation has been shown to be beneficial to slow the progression of age-related macular degeneration (AMD). However, the molecular mechanism underpinning this benefit is not well understood. This study used single-cell RNA sequencing to identify transcriptomic changes induced by zinc supplementation. Human primary retinal pigment epithelial (RPE) cells could mature for up to 19 weeks. After 1 or 18 weeks in culture, we supplemented the culture medium with 125 µM added zinc for one week. RPE cells developed high transepithelial electrical resistance, extensive, but variable pigmentation, and deposited sub-RPE material similar to the hallmark lesions of AMD. Unsupervised cluster analysis of the combined transcriptome of the cells isolated after 2, 9, and 19 weeks in culture showed considerable heterogeneity. Clustering based on 234 pre-selected RPE-specific genes divided the cells into two distinct clusters, we defined as more and less differentiated cells. The proportion of more differentiated cells increased with time in culture, but appreciable numbers of cells remained less differentiated even at 19 weeks. Pseudotemporal ordering identified 537 genes that could be implicated in the dynamics of RPE cell differentiation (FDR < 0.05). Zinc treatment resulted in the differential expression of 281 of these genes (FDR < 0.05). These genes were associated with several biological pathways with modulation of ID1/ID3 transcriptional regulation. Overall, zinc had a multitude of effects on the RPE transcriptome, including several genes involved in pigmentation, complement regulation, mineralization, and cholesterol metabolism processes associated with AMD.

Ten-year follow-up and sequential evaluation of multifocal retinal pigment epithelium abnormalities in central serous chorioretinopathy.

The study aims to analyze the 10-year outcomes in "simple" and "complex" central serous chorioretinopathy (CSCR) and to evaluate the longitudinal changes in multifocal retinal pigment epithelium (RPE) alterations. This was a retrospective, multicentric, longitudinal, observational study in patients with a diagnosis of CSCR. Visual acuity outcomes and recurrence characteristics of simple and complex were analyzed. Changes in number of foci of RPE alterations from baseline to last visit were evaluated. Out of 235 eyes screened, the study included 67 eyes of 39 patients (32 males and 7 females) with CSCR (12 simple and 55 complex CSCR). A total of 17 (29.9%) eyes had a unifocal RPE alteration, while the remaining 50 had multifocal RPE alterations at baseline. In eyes with complex CSCR, the 10-year visual acuity was significantly worse (p < 0.001), more number of eyes required treatment (p = 0.03), higher number of RPE alterations were present at baseline and last follow-up (p < 0.001 for both), and number of recurrences were higher (p < 0.001), than simple CSCR. Focal collections of RPE alterations and leakage site corresponded to mid-phase hyper-fluorescent plaques (MPHP) in all eyes. On multivariate regression analysis, a larger area of RPE alteration was associated with a worser 10-year visual acuity (p = 0.004) and complex CSCR was associated with higher number of recurrence (p = 0.005). A different course of disease progression was seen in simple and complex CSCR. An evolution in foci of RPE alterations was seen, from a simple area of MPHP, to focal RPE alterations and finally to leakage.

OCT classification of choroidal nevi

The study aims to determine the types of OCT patterns of CN and to evaluate their prognostic value. The study included 50 patients with CN (53 nevi). The height of 19 nevi evaluated with ultrasonography was 1.33±0.43 mm, diameter - 5.47±1.68 mm. CN is an area of local increase in reflectivity of the choroid; its widening and elevation of the tomographic section were observed in 72% of nevi. In more than half of all cases a distinct hyperreflective border was revealed between the CN and adjacent choroid. In two thirds of all cases the choriocapillaris layer was preserved and visualized mainly along the edge of lesion. Analysis of OCT scans showed distinct differences, which allowed designation of four OCT types of CN: 1) nevi with typical OCT pattern; 2) nevi with changes in retinal pigment epithelium (RPE); 3) nevi with neuroepithelial detachment; 4) nevi with atypical OCT pattern. Based on the analysis of OCT images of the determined types of nevi, it can be assumed that all of them initially had typical OCT pattern. With enlargement of the nevi and increase in the duration of its presence in the choroid, dystrophic processes in the adjacent retina and changes in RPE begin to occur. Disturbed pumping ability of the damaged RPE results in disruption of the trophism of adjacent retina, which leads to development of atrophic changes. Nevi with atypical OCT pattern should be considered as a sign of long-term benign process in the choroid that will cause atrophic changes in the choroid and adjacent retina, while nevi with changes in RPE and with neuroepithelial detachment - as a risk factor for transition to choroidal melanoma.

Association of Retinal Pigment Epithelium Reflectivity on Optical Coherence Tomography with Recurrence of Vogt-Koyanagi-Harada Disease: A Retrospective Observational Study.

Despite the necessity of optical coherence tomography (OCT) for diagnosis and longitudinal monitoring in patients with Vogt-Koyanagi-Harada (VKH) disease, no studies have identified useful OCT markers for predicting recurrence in these patients. Although the precise reason for this remains unclear, one possibility is that infiltration of inflammatory cells into the choroid attenuates the OCT signal, making it difficult to precisely assess the structure of the choroid. Therefore, this study aimed to investigate changes in retinal pigment epithelium (RPE) reflectivity immediately above the choroid in eyes with acute VKH disease, as well as the association between RPE reflectivity and VKH disease recurrence. This single-centered retrospective observational study included 20 treatment-naïve patients with acute VKH disease presenting with serous retinal detachment (SRD) in the posterior pole at the initial visit between October 2015 and January 2020, as well as 15 healthy control eyes. All patients were followed up for at least 6 months and received treatment with intravenous methylprednisolone followed by oral administration of prednisolone. Swept-source OCT images through the fovea were used to measure central retinal thickness, central choroidal thickness, and RPE reflectivity. During an observation period of 37.2 ± 30.8 months, recurrence of inflammation was observed in 11 patients (55.0%). Initial visual acuity was worse in patients who developed recurrence than in those who did not (P=0.024). On initial OCT images, RPE reflectivity differed significantly between patients with and without recurrence (1.75 ± 0.42 vs 1.35 ± 0.20; P=0.018), while there were no significant differences in other chorioretinal parameters, such as central retinal thickness and choroidal thickness. RPE reflectivity on OCT images may be useful for predicting the recurrence of inflammation in patients with VKH disease.

Commentary: Scleral penetration or perforation during strabismus surgery.

Commentary: Scleral penetration or perforation during strabismus surgery.

Patterns of structural and functional changes in the retina and choroid in acute posterior multifocal placoid pigment epitheliopathy

The study analyzes the patterns of pathological changes in the retina and choroid in acute posterior multifocal placoid pigmented epitheliopathy (APMPPE). The results of the examination of two patients with bilateral APMPPE were analyzed retrospectively. The examination had included visometry, tonometry, static perimetry, autofluorescence, optical coherence tomography (OCT) and optical coherence tomography angiography (OCTA). The analysis revealed signs of the inflammatory nature of the choriocapillary vascular wall lesion with the development of their local obstruction and, consequently, local ischemia of the retinal pigment epithelium (RPE) and the outer layers of the retina in the acute period. At the same time, partial destruction of the ellipsoid zone, uneven hyperreflectivity of the RPE with local areas of its elevation and impaired connection with photoreceptors were revealed. The subsequent restoration of choriocapillaris perfusion was accompanied by significant restoration of the functional and structural state of the RPE over a larger area, as well as partial restoration of the ellipsoid zone of the retina. Two years after the onset of the disease, separate areas of defects of the RPE and the outer retina were observed, coinciding in localization with zones of severe circulatory deficiency at the level of choriocapillaris in the acute stage. According to the results of multimodal imaging, choriocapillaritis is the initial link in the pathogenesis of APMPPE. The change in RPE and the outer retina is secondary to the local ischemic zones due to choriocapillaris nonperfusion. The nature of RPE change over a larger area manifests as a functional structural disorder, with the potential for recovery in case of choriocapillaris reperfusion.

Mystery of changing choroidal thickness.

Mystery of changing choroidal thickness.

The Role of Retinal Dysfunction in Myopia Development.

Myopia is a refractive disorder arising from a mismatch between refractive power and relatively long axial length of the eye. With its dramatically increasing prevalence, myopia has become a pervasive social problem. It is commonly accepted that abnormal visual input acts as an initiating factor of myopia. As the first station to perceive visual signals, the retina plays an important role in myopia etiology. The retina is a fine-layered structure with multitudinous cells, processing intricate visual signals via numerous molecular pathways. Accordingly, dopaminergic mechanisms, contributions of rod and cone photoreceptors, myopic structural changes of retinal pigment epithelium (RPE) and neuro-retinal layers have all suggested a vital role of retinal dysfunction in myopia development. Herein, we separately discuss myopia-related retinal dysfunction and current dilemmas by different levels, from molecules to cells, with the hope that the comprehensive delineation could contribute to a better understanding of myopia etiology, indicate novel therapeutic targets, and inspire future studies.

West Nile Virus–Related Retinal Pigment Epithelium Changes on Multimodal Imaging

West Nile Virus–Related Retinal Pigment Epithelium Changes on Multimodal Imaging

OCULAR MANIFESTATIONS IN GENODERMATOSES.

PURPOSE: To evaluate the Ocular manifestations in patients with genodermatoses. METHODS: 49 cases in age group 16-60 years, with a diagnosis of genodermatoses were included in the study. All the patients underwent a complete ophthalmic examination, the ndings were noted. RESULTS: The most common condition noted was NF 1(23 cases) and NF 2 (18 cases). Other diseases seen were Dariers disease (1 case) Lamellar ichthyosis (7 cases) and Epidermal nevus syndrome (1 case). 10 cases out of 23(43.47%) having NF1 showed Lisch nodules, 13(56.52%) showed eyelid neurobromas and 1(4%) showed optic nerve glioma. In patients with NF2, 2 cases (11.11%) showed cataracts. Among patients with lamellar ichthyosis, 1 case (14.28%) had ectropion. In the patient with Epidermal nevus syndrome retinal pigment epithelium changes were seen. No ocular nding was seen in the patient with Dariers disease. Genodermatoses have si CONCLUSION: gnicant ocular ndings. These conditions are rare and hence it is essential to have a complete assessment of these patients with respect to ophthalmological manifestations for better diagnosis and earlier management.