Stromal Dystrophy Research Articles

Corneal microstructural changes of precise CHST6 gene mutation: a case series

BackgroundMacular corneal dystrophy (MCD) is an inherited, autosomal recessive disorder of defective keratan sulfate (KS) metabolism. It is caused by the mutations in carbohydrate sulfotransferase 6 gene (CHST6) which is essential for the sulfation of KS. Unlike the western world, MCD is the most common corneal stromal dystrophy in India, especially in south Indian population; it could be due to high frequency of consanguineous marriages.Case presentationThis study presents the clinical findings of one North Indian MCD family, including 6 patients and 3 unaffected relatives. We used slit lamp examination and in vivo confocal microscopy for assessment. Mutation screening was performed with Sanger sequencing, and corneal structure was analyzed through histochemistry and immunohistochemistry. Our comparative findings revealed that all the patients identified with the deletion of major portion of CHST6 that included the Open Reading Frame (ORF). Although all the patients showed significantly reduced central corneal thickness (CCT-250 μm), a drastic decrease in stromal keratocyte count, and depletion of Bowman’s layer compared to controls.ConclusionsThis study first time revealed that MCD patients from one family with a deletion of major portion of CHST6 that included ORF leads to severe corneal morphological changes.

Autosomal dominant stromal corneal dystrophy associated with a SPARCL1 missense variant.

Corneal dystrophies are phenotypically and genetically heterogeneous, often resulting in visual impairment caused by corneal opacification. We investigated the genetic cause of an autosomal dominant corneal stromal dystrophy in a pedigree with eight affected individuals in three generations. Affected individuals had diffuse central stromal opacity, with reduced visual acuity in older family members. Histopathology of affected cornea tissue removed during surgery revealed mild stromal textural alterations with alcianophilic deposits. Whole genome sequence data were generated for four affected individuals. No rare variants (MAF < 0.001) were identified in established corneal dystrophy genes. However, a novel heterozygous missense variant in exon 4 of SPARCL1, NM_004684: c.334G > A; p.(Glu112Lys), which is predicted to be damaging, segregated with disease. SPARC-like protein 1 (SPARCL1) is a secreted matricellular protein involved in cell migration, cell adhesion, tissue repair, and remodelling. Interestingly, SPARCL1 has been shown to regulate decorin. Heterozygous variants in DCN, encoding decorin, cause autosomal dominant congenital stromal corneal dystrophy, suggesting a common pathogenic pathway. Therefore, we performed immunohistochemistry to compare SPARCL1 and decorin localisation in corneal tissue from an affected family member and an unaffected control. Strikingly, the level of decorin was significantly decreased in the corneal stroma of the affected tissue, and SPARCL1 appeared to be retained in the epithelium. In summary, we describe a novel autosomal dominant corneal stromal dystrophy associated with a missense variant in SPARCL1, extending the phenotypic and genetic heterogeneity of inherited corneal disease.

Long-Term Follow-Up of Pediatric Excimer Laser-Assisted Penetrating Keratoplasty for Congenital Stromal Corneal Dystrophy.

The purpose of this study was to highlight characteristic clinical and microscopic findings and report the long-term follow-up of pediatric excimer laser-assisted penetrating keratoplasty (excimer-PKP) for congenital stromal corneal dystrophy (CSCD). A 2-year-old Greek child presented with CSCD at our department. Clinical examination showed bilateral flake-like whitish corneal opacities affecting the entire corneal stroma up to the limbus. Genetic testing identified a mutation of the decorin gene (c.962delA). The variant was not present in the parents and represented a de novo mutation. The uncorrected visual acuity was 20/100 in both eyes. Excimer-PKP (8.0/8.1 mm) was performed on the right eye at the age of 2.5 years and on the left eye at the age of 3 years. Postoperatively, alternating occlusion treatment was performed. The light microscopic examination demonstrated a disorganized extracellular matrix of the corneal stroma characterized by a prominent irregular arrangement of stromal collagen lamellae with large interlamellar clefts containing ground substance, highlighted by periodic acid-Schiff- and Alcian blue-positive reaction detecting acid mucopolysaccharides. Electron microscopy showed disorganization and caliber variation of collagen lamellae and thin filaments within an electron-lucent ground substance. The postoperative course was unremarkable. Both grafts remained completely clear 14 years postoperatively. Corneal tomography showed moderate regular astigmatism with normal corneal thickness. The corrected distance visual acuity was 20/25 in both eyes. Excimer-PKP for CSCD might be associated with excellent long-term results and a good prognosis, particularly when the primary surgery is performed at a very young age. However, this requires close postoperative follow-up examinations by an experienced pediatric ophthalmologist to avoid severe amblyopia.

Femtosecond-Assisted Mushroom Deep Anterior Lamellar Keratoplasty.

The aim of this study was to describe our technique for performing femtosecond laser (FSL)-assisted mushroom configuration in deep anterior lamellar keratoplasty (DALK). We describe our surgical technique for a mushroom-configuration DALK using a femtosecond laser (FSL) both to prepare the graft and to perform a precut of the recipient cornea, as well as the steps for the dissection of the recipient cornea and for donor cornea implantation. Moreover, we show the parameters of energy and spot separation and the external and internal diameters as well as the thickness of the external and internal keratotomy. We performed a retrospective case series study of 20 patients with a mean follow-up of 4.36 ± 2.54 years. The indication for surgery was leukoma in 15 cases (75%), keratoconus in 4 cases (20%), and stromal corneal dystrophy in 1 case (5%). Four cases had to be converted to penetrating keratoplasty. The overall results were as follows: The mean preoperative corrected distance visual acuity increased from 0.11 ± 0.09 (0.01-0.30) to 0.78 ± 0.22 (0.30-1.0) with spectacles and to 0.92 ± 0.13 (0.5-1.0) with a gas permeable contact lens. The mean final cylinder was 3.90 ± 1.86 (1.25-7.0). The mean endothelial cell count at 6 months was 2033.83 ± 570.53 cells/mm 2 (930-3207), and the mean final spherical equivalent was -4.67 ± 2.91 (-0.25 to -9.00). FSL-assisted technology is useful to achieve a predictable and safe procedure when using mushroom configuration to perform DALK. Our conversion rate from DALK to penetrating keratoplasty was similar to or even lower than that reported in the literature. In the successful DALK cases, the visual and refractive results were similar to those reported in other studies using FSL-assisted DALK (with a standard or mushroom configuration).

A rare case of bilateral keratoconus and granular corneal dystrophy managed with contact lens

Keratoconus (KC) is a bilateral, non-inflammatory, progressive thinning disorder of the cornea that results in high irregular astigmatism, distortion, and poor vision. Granular corneal dystrophy (GCD) is an autosomal dominant stromal dystrophy with onset in childhood that involves the entire cornea. KC associated with GCD is a rare combination that could occur due to abnormal synthetic activity of keratocytes and degeneration of defective basal epithelial cells. This case report shows the management of KC associated with GCD – an uncommon condition.

Investigation of Anterior Scleral Thickness in Patients with Corneal Stromal Dystrophies Using Swept-Source Anterior Segment Optic Coherence Tomography

Objective: The distinctive feature of corneal dystrophies is the existence of abnormal deposits that are insoluble and found in different layers of the cornea. While corneal thickness has been investigated in corneal stromal dystrophies, anterior scleral thickness has not yet been evaluated. We aimed to investigate anterior scleral thickness and corneal and anterior segment parameters in corneal stromal dystrophies in this study. Materials and methods: The study was conducted with 35 eyes with corneal stromal dystrophies from 19 patients and 35 healthy controls. We calculated the anterior scleral thickness 4 mm posterior to the scleral spur in the nasal and temporal quadrants, by anterior segment optic coherence tomography (Triton, Topcon, Japan). Scheimflug corneal tomography (Sirius, CSO, Italy) was performed to assess corneal and anterior segment parameters. Results: The mean age was 36.5±12.1 years in the dystrophy group. The mean temporal scleral thickness was 556.67±15.11 µm, and the mean nasal scleral thickness was 565.83±15.18 µm, statistically similar to those of the control group (p=0.81, p=0.51, respectively). However, the difference between temporal and nasal scleral thickness values was not statistically significant in the dystrophy group (p=0.53, p=0.57). Intraocular pressure was higher in lattice stromal dystrophy than in other dystrophies (p=0.005). There was found to be a moderate, positive correlation between age and nasal scleral thickness in the control group. (r=0.432; p=0.010). Conclusion: In conclusion, we found that scleral thickness did not change in corneal dystrophies. Further histological studies are needed to conclusively exclude microstructural alterations of scleral thickness in patients with corneal stromal dystrophies.

The newest IC3D classification of corneal dystrophies

In the year 2015, the International Committee for the Classification of Corneal Dystrophies (IC3D) incorporated new clinical, histopathologic, and genetic information into the former 2008 classification. To this end, the IC3D sighted and evaluated worldwide peer‐reviewed articles for new information on corneal dystrophies published between 2008 and 2014. Using this information, corneal dystrophy templates including categories 1 to 4 and anatomic classification were updated. New clinical, histopathologic, and confocal photographs were added.On the basis of revisiting the cellular origin of corneal dystrophies, a modified anatomic classification was proposed consisting of (1) epithelial and subepithelial dystrophies, (2) epithelial‐stromal TGFBI dystrophies, (3) stromal dystrophies, and (4) endothelial dystrophies. The entity “Epithelial recurrent erosion dystrophies ERED” actually includes a number of potentially distinct epithelial dystrophies (Franceschetti corneal dystrophy, Dystrophia Smolandiensis, and Dystrophia Helsinglandica) but must be differentiated from dystrophies such as TGFBI‐induced dystrophies, which are also often associated with recurrent epithelial erosions. The chromosome locus of Thiel‐Behnke corneal dystrophy is only located on 5q31. The entity previously designated as a variant of Thiel‐Behnke corneal dystrophy on chromosome 10q24 may represent a novel corneal dystrophy. Congenital hereditary endothelial dystrophy (CHED, formerly CHED2) is most likely only an autosomal recessive disorder. The so‐called autosomal dominant inherited CHED (formerly CHED1) is insufficiently distinct to continue to be considered a unique corneal dystrophy. On review of almost all of the published cases, the description appeared most similar to a type of posterior polymorphous corneal dystrophy linked to the same chromosome 20 locus (PPCD1). Anterior segment OCT has emerged as a helpful tool to reveal in vivo features of several corneal dystrophies that previously required histopathologic examination in order to definitively diagnose them.This revision of the IC3D classification includes an updated anatomic classification of corneal dystrophies that more accurately classifies TGFBI dystrophies affecting multiple layers rather than being confined to one corneal layer. At this time, a 3rd edition of the IC3D classification of corneal dystrophies is under way.

Far‐red, high‐resolution, reflection‐free images of the anterior segment in retroillumination

Aims/Purpose: Retroillumination observation of the anterior segment is a routine examination method as old as the slit lamp, but capturing good quality images is difficult because of patient glare, the presence of corneal and or lens reflections, and limited resolution. We have modified a slit lamp to overcome these limitations and present the first series of images obtained.Methods: On a Topcon SL‐D7 slit lamp, we replaced the light source with a far‐red LED (Thorlabs, M780L3, 200 mW, 800 mA at 780 nm) and added a monochrome camera with sufficient resolution (Baumer, VCXU‐123 M). Reflection suppression was achieved by modifying the optical path (patent pending). In a clinical trial validated by an ethics committee (IDRCB: 2021‐A01496‐35), we acquired images of 5 different diseases after pupillary dilation: cataract, posterior capsule opacification, hereditary stromal dystrophy, Fuchs' corneal endothelial dystrophy (FECD), Bowman's membrane dystrophy.Results: Our innovative prototype device made it possible to obtain images of 3000 × 4096 pixels for 13.3 × 9.7 mm (×40 magnification). In 100% of the cases, one or more clear images on the area of interest were obtained without glare, and without disturbing reflections in 90% of the cases. Some pseudophakic patients showed minimal to moderate light reflection. The images were sufficiently resolved to allow precise analysis of disease areas, such as each guttae of the FECD.Conclusions: Our retroilluminator prototype provides, for the first time to our knowledge, high‐resolution images of the different structures of the anterior segment, easy to acquire and likely to facilitate the diagnosis and follow‐up of patients. Improvements to the prototype are underway to remove some persistent reflections. One of the first applications will be the classification of the severity of endothelial damage in FECD.

Corneal opacities in children

The corneal opacities in childhood could be either, congenital or acquired. The congenital could either localized/non‐systemic disease, like the congenital hereditary endothelial dystrophy, posterior polymorphous corneal dystrophy, congenital hereditary stromal dystrophy, peters anomaly, congenital anterior staphyloma, sclerocornea, cornea plana, cornea tumours, epibulbar dermoid, or related to systemic/metabolic Disorders like mucopolysaccharidoses, cystinosis, tyrosinemia, schnyder crystalline dystrophy, fetal alcohol syndrome. The acquired corneal opacities could be either traumatic, like traumatic breaks in descemet membrane, corneal blood staining, corneal keloids, or non traumatic like keratoconus, posterior corneal depression, keratoglobus, congenital or infantile glaucoma, Corneal ulcers, Familial dysautonomia (Riley‐Day syndrome), Stevens‐Johnson syndrome and toxic epidermal necrolysis. We will discuss these cases, their clinical picture, work up and management.

Хирургическое лечение первичных дистрофий роговицы

Primary corneal dystrophies management should be aimed at eliminating the main complaints of the patient and be based on the correct diagnosis of the type of dystrophy, assessment of the volume of stromal tissue lesions, as well as the risk of disease recurrence. Among modern methods of surgical treatment of corneal dystrophies, phototherapeutic keratectomy, lamellar and penetrating keratoplasty are most widely used. The main goal of surgical treatment is to maintain the transparency of optical media, increase visual functions and improve the quality of life of patients, and the volume and type of surgery should be minimized and be sparing. The choice of surgical approach and volume of surgical intervention is determined depending on the severity of corneal opacity and the type of dystrophy. The article presents an assessment of the effectiveness of various surgical approaches to treatment on two clinical cases in patients with some forms of anterior corneal dystrophies, in particular, granular stromal dystrophy types I and II. Key words: primary corneal dystrophies, granular dystrophy, surgical treatment, phototherapeutic keratectomy, anterior lamellar keratoplasty

Histopathologic Changes in Congenital Corneal Stromal Dystrophy: Report of 4 Cases in 2 Families.

Corneal dystrophies are hereditary diseases affecting the corneal tissue; they are bilateral, symmetrical and unrelated to environmental or systemic conditions. Congenital corneal stromal dystrophy is a very rare autosomal dominant dystrophy that is caused by a mutation in the DCN gene that encodes decorin (a proteoglycan of the extracellular matrix). We herein report 4 cases of congenital stromal corneal dystrophy in 2 families, highlighting the previously undescribed histopathologic features, the possible differential diagnosis of this entity and the key role played by decorin staining in its diagnosis.

Small leucine rich proteoglycans: Biology, function and their therapeutic potential in the ocular surface

Small leucine rich proteoglycans (SLRPs) are the largest family of proteoglycans, with 18 members that are subdivided into five classes. SLRPs are small in size and can be present in tissues as glycosylated and non-glycosylated proteins, and the most studied SLRPs include decorin, biglycan, lumican, keratocan and fibromodulin. SLRPs specifically bind to collagen fibrils, regulating collagen fibrillogenesis and the biomechanical properties of tissues, and are expressed at particularly high levels in fibrous tissues, such as the cornea. However, SLRPs are also very active components of the ECM, interacting with numerous growth factors, cytokines and cell surface receptors. Therefore, SLRPs regulate major cellular processes and have a central role in major fundamental biological processes, such as maintaining corneal homeostasis and transparency and regulating corneal wound healing. Over the years, mutations and/or altered expression of SLRPs have been associated with various corneal diseases, such as congenital stromal corneal dystrophy and cornea plana. Recently, there has been great interest in harnessing the various functions of SLRPs for therapeutic purposes. In this comprehensive review, we describe the structural features and the related functions of SLRPs, and how these affect the therapeutic potential of SLRPs, with special emphasis on the use of SLRPs for treating ocular surface pathologies.

Mini-Review: Clinical Features and Management of Granular Corneal Dystrophy Type 2.

Granular corneal dystrophy type 2 (GCD2) is an autosomal dominant corneal stromal dystrophy that is caused by p.Arg124His mutation of transforming growth factor β induced (TGFBI) gene. It is characterized by well demarcated granular shaped opacities in central anterior stroma and as the disease progresses, extrusion of the deposits results in ocular pain due to corneal epithelial erosion. Also, diffuse corneal haze which appears late, causes decrease in visual acuity. The prevalence of GCD2 is high in East Asia including Korea. Homozygous patients show a severe phenotype from an early age, and the heterozygote phenotype varies among patients, depending on several types of compound heterozygous TGFBI mutations. In the initial stage, conservative treatments such as artificial tears, antibiotic eye drops, and bandage contact lenses are used to treat corneal erosion. Different surgical methods are used depending on the depth and extent of the stromal deposits. Phototherapeutic keratectomy removes anterior opacities and is advantageous in terms of its applicability and repeatability. For deeper lesions, deep anterior lamellar keratoplasty can be used as the endothelial layer is not always affected. Recurrence following these treatments are reported within a wide range of rates in different studies due to varying definition of recurrence and follow-up period. In patients who have undergone corneal laser vision-correction surgeries such as photorefractive keratectomy, LASEK, or LASIK including SMILE surgery, corneal opacity exacerbates rapidly with severe deterioration of visual acuity. Further investigations on new treatments of GCD2 are necessary.

Thygeson's superficial punctate keratitis in children.

To describe the first paediatric case series of Thygesons' superficial punctate keratitis (TSPK) with management outcomes. A retrospective chart review was done for all children either diagnosed at initial presentation or referred with TSPK from 01/2012 to 08/2021 at a tertiary children's hospital. Records were assessed for signs, symptoms, diagnosis, steroid and cyclosporine 0.05% use. The main outcome measures were visual acuity, treatment response and total steroid exposure. Fifteen children (7 females), mean age at presentation 8 ± 4 years were included. All had bilateral disease and a BCVA of >20/40 in the better eye. All patients received topical fluorometholone 0.1%, (FML) initially. 80% had a good response to FML. Corneal scraping was done to exclude infectious causes in four cases due to poor initial response or clinical suspicion. All 4 needed EUA for scraping and anterior segment OCT, after which 2 had molecularly confirmed TGFBI-related stromal dystrophy. For the rest, slow steroid taper was done every 4-6 weeks and recurrences were treated by increasing steroid frequency. Cyclosporine 0.05% was started in nine patients (69%), 8 ± 6 months after initial presentation. The decrease in total steroid exposure per week after starting cyclosporine was statistically significant (p < 0.05). Children with TSPK respond quickly to steroids, however, recurrences are common, necessitating a slow taper. Non-response to steroid needs careful reconsideration of the diagnosis and may necessitate the use of an EUA. Using cyclosporine 0.05% reduces the total steroid exposure in TSPK.

A pediatric case of congenital stromal corneal dystrophy caused by the novel variant c.953del of the DCN gene

We report a 1-year-old girl with congenital stromal corneal dystrophy confirmed by genetic analysis. The ocular phenotype included diffuse opacity over the corneal stroma bilaterally. We performed a genetic analysis to provide counseling to the parents regarding the recurrence rate. Whole exome sequencing was performed on her and her parents, and a novel de novo variant, NM_001920.5: c.953del, p.(Asn318Thrfs*10), in the DCN gene was identified in the patient.

Management of Stromal Corneal Dystrophies; Review of the Literature with a Focus on Phototherapeutic Keratectomy and Keratoplasty.

Corneal dystrophies are a group of non-inflammatory inherited disorders of the cornea. This review considers treatment options for epithelial-stromal and stromal corneal dystrophies: namely Reis-Bücklers, Thiel-Behnke, lattice, Avellino, granular, macular and Schnyder corneal dystrophies. Where there is visual reduction, treatment options may include either phototherapeutic keratectomy (PTK) or corneal transplantation. Due to the anterior location of the deposits in Reis-Bücklers and Thiel-Behnke dystrophies, PTK is considered the treatment of choice. For lattice, Avellino, granular and macular corneal dystrophies, PTK provides temporary visual improvement; however, with recurrences, repeat PTK or a corneal transplant would be needed. For Schnyder dystrophy, should treatment be required, PTK may be the preferred option due to the potential for recurrence of the disease in corneal transplantation. This review discusses the literature and evidence base for the treatment of corneal dystrophies in terms of visual outcomes and recurrence rate.

Phototherapeutic keratectomy: current approaches and changing trends in a tertiary eye clinic.

To examine the efficacy of phototherapeutic keratectomy as a treatment for variable pathologies with anterior corneal opacities and evaluate the distribution of phototherapeutic keratectomy indications over the past 10 years. The records of 334 eyes from 276 patients who underwent phototherapeutic keratectomy between March 2010 and 2020 were retrospectively reviewed. Etiologies of the patients who underwent phototherapeutic keratectomy were noted, and their changes were examined. Refractive and visual acuity results before and after the operation were recorded and analyzed according to etiology. The mean age of the patients was 40.7 ± 16.2 years (range: 19-84). The mean follow-up was 25.5 ± 19.1 months (range: 3-96). Phototherapeutic keratectomy was most frequently applied for corneal stromal dystrophies (44%, 151 eyes from 111 patients), and granular dystrophy was the most common phototherapeutic keratectomy indication among corneal dystrophies. Unlike other indications, there has been an increase in the application of phototherapeutic keratectomy for persistent subepithelial opacities due to adenoviral conjunctivitis in the past 10 years. There was a significant increase in visual acuity in all groups except for the recurrent epithelial defect group (p<0.05). The greatest improvement in visual acuity was detected for stromal dystrophies in the granular dystrophy subgroup. Despite changing indication trends, phototherapeutic keratectomy remains an effective and reliable treatment for anterior corneal lesions.

Role of Decorin in the Lens and Ocular Diseases

Decorin is an archetypal member of the small leucine-rich proteoglycan gene family and is involved in various biological functions and many signaling networks, interacting with extra-cellular matrix (ECM) components, growth factors, and receptor tyrosine kinases. Decorin also modulates the growth factors, cell proliferation, migration, and angiogenesis. It has been reported to be involved in many ischemic and fibrotic eye diseases, such as congenital stromal dystrophy of the cornea, anterior subcapsular fibrosis of the lens, proliferative vitreoretinopathy, et al. Furthermore, recent evidence supports its role in secondary posterior capsule opacification (PCO) after cataract surgery. The expression of decorin mRNA in lens epithelial cells in vitro was found to decrease upon transforming growth factor (TGF)-β-2 addition and increase upon fibroblast growth factor (FGF)-2 addition. Wound healing of the injured lens in mice transgenic for lens-specific human decorin was promoted by inhibiting myofibroblastic changes. Decorin may be associated with epithelial-mesenchymal transition and PCO development in the lens. Gene therapy and decorin administration have the potential to serve as excellent therapeutic approaches for modifying impaired wound healing, PCO, and other eye diseases related to fibrosis and angiogenesis. In this review, we present findings regarding the roles of decorin in the lens and ocular diseases.

Novel DCN Mutation in Armenian Family With Congenital Stromal Corneal Dystrophy.

Congenital stromal corneal dystrophy (CSCD) is a rare congenital, dominantly inherited disorder characterized by diffuse stromal opacification associated with mutations in the decorin gene ( DCN ). As only 5 families with genetically confirmed CSCD have been reported, the identification of a novel pedigree provides the opportunity to better characterize the phenotype and genetic basis. An Armenian family with individuals in 4 consecutive generations demonstrated clinical features consistent with CSCD. Consented individuals underwent slit lamp examination, optical coherence tomography, and confocal microscopy. Genomic DNA was collected from saliva and all coding and adjacent intronic regions of DCN were sequenced. In silico analysis was performed for identified mutation(s). Excised corneal tissue underwent light, electron microscopic, and immunohistochemical evaluation. Affected individuals demonstrated bilateral, diffuse, panstromal corneal opacification. Three of the 6 individuals diagnosed with CSCD underwent genetic analysis; all demonstrated a novel heterozygous frameshift deletion in exon 8 of DCN (p.His317Thrfs*11), predicted to cause a 33 amino acid truncation and to be damaging and disease causing by SIFT and MutationTaster. Light and electron microscopic examination of an excised cornea demonstrated increased corneal thickness, stromal scarring, keratocyte loss, and an irregularity of lamellar collagen spacing and fibril formation. Immunofluorescent examination demonstrated increased DCN immunostaining, predominantly in the widened interlamellar spaces. We report only the sixth pedigree with genetically confirmed CSCD, associated with a novel DCN frameshift mutation. The clinical evaluation, multimodal imaging, and histopathologic assessment in this family with CSCD broaden our understanding of this rare corneal disease.

Atypical presentation of macular corneal dystrophy

A 65-year old male patient presented to our ophthalmology OPD for regular check up. On examination visual acuity of the right eye was 6/24 improving to 6/12p with pinhole and left eye was 6/18 improving with pinhole 6/9. On examination of anterior segment both eyes cornea showed multiple white round deposits at deep posterior stroma and Descemet membrane – endothelium complex scattered circumferentially in the peripheral cornea and the central cornea clear and lens showed Immature cataract. Fundus examination was within normal limits. A differential diagnosis of stromal corneal dystrophy or endothelial corneal dystrophy was made. By exclusion, we came to the diagnosis of macular corneal dystrophy.