Macular corneal dystrophy with iridofundal coloboma in the same patient: a unique combination.

A young a presented with painless, progressive diminution of vision in both eyes (BE). Slit lamp examination revealed the presence of a single central corneal opacity in the right eye and multiple corneal opacities of varying sizes in the left eye (LE), limited to the anterior-mid corneal stroma. Microcornea with reduced central corneal thickness and complete inferonasal iris coloboma along with inferior fundal coloboma, sparing both the disc and macula, were noted in BE. A diagnosis of BE macular corneal dystrophy (MCD) and iridofundal coloboma (IFC) was made. The patient underwent LE sutureless anterior lamellar therapeutic keratoplasty. On histopathological examination, the excised corneal tissue revealed stromal lamellar disarray with positive colloidal iron staining, strongly suggestive of MCD. Whole-exome sequencing revealed the presence of a likely pathogenic carbohydrate sulfotransferase 6 (CHST6) mutation, confirming the diagnosis of MCD. This concurrent presence of IFC with a corneal stromal dystrophy is previously unreported in the literature, to the best of our knowledge.

Unilateral Granular Type 2 Corneal Dystrophy With Exacerbation After LASIK.

PURPOSE: The aim of this study was to report a case of unilateral granular corneal dystrophy type 2 (GCD2) with exacerbation after bilateral laser in situ keratomileusis (LASIK). METHODS: Clinical evaluation, Scheimpflug imaging, anterior segment optical coherence tomography (AS-OCT), cytology, and genetic testing were used to confirm the diagnosis of unilateral GCD2 with exacerbation after bilateral LASIK. Detailed literature review for possible unilateral GCD2 presentations was performed. RESULTS: A 54-year-old White woman presented with blurred vision in her left eye and a history of bilateral LASIK performed 8 years before. Examination revealed dense opacities in the left cornea only, which were confirmed to be confined to the LASIK interface and adjacent corneal stromal tissue, as determined by AS-OCT. The patient underwent flap lift, interface debris removal, and stromal bed phototherapeutic keratectomy. Cytological analysis showed eosinophilic corneal stromal deposits that stained with trichrome stain and were congophilic on Congo red stain. Genetic testing was positive for heterozygous GCD2 transforming growth factor ß-induced gene ( TGFBI ), c.371G>A, p.R124H mutation. There were no opacities identifiable in the right eye on serial slit-lamp examination, Scheimpflug imaging, or OCT imaging at 4 or 8 years after bilateral LASIK. Literature review failed to identify any previous reports of unilateral GCD2. CONCLUSIONS: This is the first known reported case of unilateral granular corneal dystrophy type 2. LASIK is contraindicated in eyes with corneal stromal dystrophies related to mutations in TGFBI as both flap creation and laser ablation can exacerbate visually significant opacity formation. Scheimpflug and AS-OCT imaging are useful to identify opacities in GCD2.

Variable Phenotype of Congenital Corneal Opacities in Biallelic CYP1B1 Pathogenic Variants.

PURPOSE: The aim of this study is to describe the variable phenotype of congenital corneal opacities occurring in patients with biallelic CYP1B1 pathogenic variants. METHODS: A retrospective chart review was conducted to identify patients with congenital corneal opacities and CYP1B1 pathogenic variants seen at UPMC Children's Hospital of Pittsburgh. Ophthalmic examination, high-frequency ultrasound, anterior segment optical coherence tomography, histopathologic images, and details of genetic testing were reviewed. RESULTS: Three children were identified. All presented with raised intraocular pressure. Two patients showed bilateral limbus-to-limbus avascular corneal opacification that did not resolve with intraocular pressure control; 1 showed unilateral avascular corneal opacity with a crescent of clear cornea, iridocorneal adhesions, iridolenticular adhesions, and classical features of congenital glaucoma in the fellow eye (enlarged corneal diameter, Haab striae, and clearing of the corneal clouding with appropriate intraocular pressure control). The first 2 patients were visually rehabilitated with penetrating keratoplasty. Histopathology revealed distinct features: a variably keratinized epithelium; a thick but discontinuous Bowman-like layer with areas of disruption and abnormal cellularity; Descemet membrane, when observed, showed reduced endothelial cells; and no pathological changes of Haab striae were identified. Two patients had compound heterozygous pathogenic variants in CYP1B1 causing premature stop codons, whereas 1 was homozygous for a pathogenic missense variant. CONCLUSIONS: Congenital corneal opacities seen in biallelic CYP1B1 pathogenic variants have a variable phenotype. One is that commonly termed as Peters anomaly type 1 (with iridocorneal adhesions, with or without iridolenticular adhesions) and the other is a limbus-to-limbus opacity, termed CYP1B1 cytopathy. Clinicians should be aware of this phenotypic variability.

Magnetic Resonance Imaging Findings and Genetic Testing Results in Children With Congenital Corneal Opacities.

PURPOSE: This study investigates brain and globe abnormalities identified on magnetic resonance imaging (MRI) in children with congenital corneal opacities (CCO). DESIGN: Retrospective cohort study. METHODS: Clinical notes, radiology records, and genetic testing results were reviewed for patients diagnosed with corneal opacification within the first 6 months of life at a tertiary referral academic center between August 2008 and January 2018. Ocular findings, systemic anomalies, neuroimaging, and genetic testing results were summarized. RESULTS: A total of 135 patients presenting at age 1 day to 12 years (mean age, 1 year) were identified. Children with bilateral CCO were more likely to have systemic disease (P = 0.018). Of the entire cohort, 43 (31.8%) patients received MRI, of whom 27 (62.8%) had abnormal brain findings and 30 (69.7%) had abnormal orbital findings. The most common abnormal brain findings were ventriculomegaly (n = 16, 59.2%) and corpus callosum abnormalities (n = 10, 37.0%) followed by brainstem/pons anomalies (n = 5, 18.5%), and cerebellar anomalies (n = 2, 7.4%). Abnormal brain MRI findings were associated with the presence of neurologic (P = .003) and craniofacial (P = .034) disease. A total of 44 (32.1%) patients underwent genetic testing, of whom 29 (65.9%) had pathogenic results. CONCLUSIONS: More than 60% of the children with CCO who underwent MRI had abnormal brain and orbit findings that were correlated with significant neurologic disease. Furthermore, almost two-thirds of patients with CCO who underwent genetic testing had pathogenic results. These data demonstrate the value of systemic workup in children with CCO, and highlight the role of ophthalmologists in facilitating the diagnosis of systemic comorbidities associated with CCO.

[PETERS ANOMALY AND PETERS PLUS SYNDROME].

INTRODUCTION: Peters anomaly is characterized by a defect in the development of the anterior segment of the eye during fetal development (Anterior segment dysgenesis). This anomaly presents a broad clinical presentation ranging from minimal peripheral corneal opacity to extensive adhesions of the iris and lens with dense central corneal opacity that impairs vision. Peters Plus Syndrome is a recessive autosomal syndrome manifested by Peters anomaly, along with systemic disorders such as brachydactyly (short fingers and toes), short stature, a developmental delay, dysmorphic facial features, and may accompanied with heart and genitourinary malformations. The most common sign of Peters' anomaly is corneal opacity that appears at birth. This opacity can cause blockage of the central visual axis and cause the development of a deprivational amblyopia. In addition, the patient may suffer from glaucoma due to malformations in the angle structures as well as a shallow anterior chamber. Treatments are aimed at clearing the central visual axis as soon as possible in order to allow the visual system to mature and to avoid the development of amblyopia. Full-thickness corneal transplantation combined with Cataract surgery if necessary is the current standard of care. Optical iridoplasty is a milder surgical alternative in cases where the corneal opacity is not significant.

Rare Case of Thygeson Superficial Punctate Keratitis After COVID-19 Vaccination.

PURPOSE: The aim of this study was to elucidate a rare corneal association of the coronavirus disease 2019 (COVID-19) vaccine. Although cases of corneal involvement after vaccination have been reported, we present the first case of Thygeson superficial punctate keratitis (TSPK) linked to the COVID-19 vaccine. METHODS: This study is a case report. RESULTS: A 25-year-old woman was assessed in the ophthalmology clinic for recurrent ocular surface symptoms after receiving the COVID-19 vaccine. She was followed in clinic and was found to have a remitting and recurring pattern of bilateral intraepithelial corneal opacities with associated subepithelial haze primarily overlying the pupillary area. These corneal lesions responded well to topical corticosteroid ophthalmic drops. Based on the clinical appearance, the response to treatment, negative herpes simplex virus serology, and the temporal relationship between vaccination and ocular findings, a diagnosis of COVID-19 vaccine-induced TSPK was suspected. CONCLUSIONS: Although the COVID-19 vaccine remains overwhelmingly safe, clinicians should be aware of possible corneal side effects, including TSPK. Prompt ophthalmic assessment in those presenting with ocular symptoms after vaccination is encouraged.

[Corneal disease in childhood-Hereditary, degenerative or infectious?] / Hornhauterkrankungen im Kindesalter ­ Hereditär, degenerativ oder infektiös?

BACKGROUND: Adequate visual acuity significantly contributes to the age-appropriate development of children's neurobehavior. Infantile corneal opacities are rare but implicate a high potential for amblyopia. OBJECTIVE: This review aims to provide an overview of the most common causes of infantile corneal opacities and highlights ophthalmopathological correlations. METHODS: The following review is based on an extensive literature search. RESULTS: If metabolic diseases, traumatic or infectious events can be excluded as a cause for an infantile corneal opacity, it is important to focus on the 3Ds, corneal dysgenesis, corneal dystrophy or corneal degeneration. DISCUSSION: If corneal opacities occur in childhood, early recognition, diagnosis, and initiation of treatment, including prophylaxis of amblyopia, are of utmost importance. In unexplained corneal opacities the histopathological work-up of the explanted cornea can contribute to the final diagnosis.

Aesthetic corneal tattooing/keratopigmentation using tattoo pen machine: choosing suitable method and color.

PURPOSE: This article aims to present the corneal tattooing method and how using a tattoo pen machine can improve aesthetic appearance in patients with corneal leukoma. METHODS: In this study, 42 patients were evaluated who had no visual potential and who had undergone colored corneal tattooing using an automatic tattoo pen machine for aesthetic purposes. The procedure was conducted according to the principles of the Declaration of Helsinki. The commercially available tattoo ink that has traditionally been used on human skin (brown, green, and black) for years was used for all the patients in this study, and 252 corneal photographs (with a Topcon slit lamp imaging device at 16 magnifications, i.e., 16 ×) taken within the last 2 years were evaluated retrospectively. Red, green, and blue (RGB) and hue, saturation, and lightness (HSL) values of the tattooed areas, such as pupils and iris, in corneal photographs were determined online using the Color Code Finder program. The RGB and HSL values of the pupil and iris were compared before surgery on the first day and first week, first month, third month, and twelfth month after surgery. RESULTS: In the first postoperative month, the mean pupil lightness (L) and iris L values were found to have increased by 10.7% and 5.7%, respectively. Between the first month and the first year, the L value of the mean pupil and that of the iris increased by 1.7% and 5.2%, respectively. The increase in the RGB value of the mean pupil in the first month was statistically significant (p = 0.02). The highest increase in RGB values of the iris was observed in the first week and first month (p = 0.113). This result shows that the majority of fading occurred in the first month. After the first month, the increase in the L value in the black-colored pupil was less than that in the brown- or green-colored iris. These results show that light colors fade faster and more. CONCLUSION: Esthetically, corneal leukoma causes severe psychological problems. Many patients are unable to use prosthetic contact lenses. Evisceration surgery has many complications, and limbal stem cells are used in evisceration surgery. Corneal tattooing using a tattoo pen machine is an easy, practical, and repeatable method used for aesthetic purposes. Successful results require the use of appropriate methods, ink, and ophthalmologist's experience. All patients in this study had a more aesthetic appearance than the preoperative white eye. Further studies are needed to develop a colored aesthetic tattooing method with a tattoo pen machine.

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 ß 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.

Intrastromal keratopigmentation: a boon for unsightly corneal scars.

PURPOSE: The aim of this study was to improve cosmesis in patients with corneal opacity (CO) using newer organic micronized pigments. METHODS: Settings: Tertiary Care eye center, Design: Retrospective study. INCLUSION CRITERIA: Patients with unsightly corneal scars not suitable for keratoplasty, eccentric corneal opacity not requiring keratoplasty, or lenticular opacity/anterior or posterior capsular opacities in non-seeing eyes. Micronized organic pigment was used for keratopigmentation by the intrastromal pocket technique (ISPT) in deep corneal opacities and lenticular opacities, whereas the intrastromal needle puncture technique (ISNT) was used in superficial opacities or corneoiridic scars. The records of 463 patients were reviewed and analyzed for the duration of the past 7 years. RESULTS: Two hundred and ninety-three (63.2%) patients underwent ISNT, eight underwent combined technique, and the rest underwent ISPT. The postoperative follow-up period showed more watering and redness in the needle puncture technique (p > 0.001), which resolved in 70.4% of patients by the end of 4 weeks. Repeat procedures were required in 5.3% of the patients with ISNT. The patient's satisfaction grading showed excellent levels in 375 (80.9%) patients, 45 (9.7%) had good satisfaction levels, and the rest had average satisfaction levels. CONCLUSION: Intrastromal keratopigmentation is a boon for unsightly corneal scars and gives respite to the patients from the social stigma.

Ocular Manifestations of Peters Plus-Like Syndrome in 8q21.11 Microdeletion Syndrome.

PURPOSE: The aim of this study was to report a case of Peters plus-like syndrome, which revealed to have an 8q21.11 microdeletion by copy number variation analysis using exome data. METHODS: A 6-month-old Japanese boy presented with bilateral corneal opacity since birth. The right eye maintained central corneal transparency with slightly inferior nasal and superior peripheral corneal opacities. The entire cornea was opacified in the left eye, particularly in the superior quadrants with vascularization, suggesting Peters anomaly. Identification of intraocular structures in the left eye was difficult; however, hypoplasia of the circumferential anterior iris stroma appeared bilaterally present, and no abnormalities were present in the posterior segment on funduscopic examination of the right eye and ultrasonography in the left eye. He had several facial malformations in addition to corneal opacity, but no other external abnormalities. General examination, including biochemical tests of blood and urine, physiological and imaging tests including abdominal echo, auditory brain stem response, brain computed tomography, and magnetic resonance imaging, showed no abnormalities. However, the patient showed intellectual disability and delayed motor development. RESULTS: Although his karyotype was normal, copy number variation analysis using exome data and subsequent quantitative polymerase chain reaction identified a de novo 4.6-Mb deletion at 8q21.11q21.13; thus, the patient was diagnosed with 8q21.11 microdeletion syndrome. CONCLUSIONS: We identified a de novo 4.6-Mb deletion at 8q21.11q21.13 in a patient with ophthalmic anterior segment dysgenesis and systemic complications, clinically diagnosed as Peters plus-like syndrome. Clinically, the 8q21.11 microdeletion syndrome shows a phenotype similar to that of Peters plus syndrome, and a genetic diagnosis is required.

Changes in Corneal Clouding Over Time in Patients With Mucopolysaccharidosis.

PURPOSE: Mucopolysaccharidoses (MPSs) are a rare group of lysosomal storage disorders characterized by the accumulation of incompletely degraded glycosaminoglycans (GAGs) in multiple organ systems, including the eye. Visual loss occurs in MPS predominantly due to corneal clouding. Despite the success of enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT) in improving many systemic manifestations of MPS, less is known about their effect on corneal clouding. This study prospectively analyses the effect of both ERT and HSCT on corneal clouding using objective measures over time. METHODS: This is a prospective longitudinal observational study. Corneal clouding was assessed in each participant using slitlamp, digital slit-lamp photographs, and an iris camera (Corneal Opacification Measure [COM] and the Pentacam system). RESULTS: Data were collected for 65 participants: 39 MPS I (Hurler), 5 MPS II (Hunter), 12 MPS IV (Morquio), and 9 MPS VI (Maroteaux-Lamy). Follow-up data are available for 45 participants (29 MPS I, 3 MPS II, 6 MPS IV, and 7 MPS VI). CONCLUSIONS: This study found corneal clouding to be stable in most participants with MPS I, II, IV, and VI over a follow-up period of 5 to 75 months (median of 30 months) when measured with clinical corneal grading systems, graded digital slit-lamp images, and iris camera COMs. For those with Pentacam densitometry measures, there was a progression of corneal clouding, on average, in those with MPS I and MPS VI. There was no apparent difference in progression of corneal clouding between patients who were on ERT, HSCT, or no treatment.

Acute central corneal haze and thinning with atypical keratitis presentation.

A 24-year-old woman presented with a 7-day history of blurry vision, redness, and extreme pain in her right eye. She had no pertinent medical or ocular history and did not use spectacles or contacts. Uncorrected distance visual acuity (UDVA) was 20/40 in the right eye and could not be improved with refraction. Slitlamp examination revealed a 1.5 × 1.5 mm central epithelial defect with surrounding white blood cell recruitment. Confocal microscopy (Figure 1JOURNAL/jcrs/04.03/02158034-202304000-00020/figure1/v/2023-03-24T200747Z/r/image-tiff) was performed, and she was treated with chlorhexidine 0.02% drops every hour in the right eye. 2 weeks later, the cornea had completely re-epithelialized; however, persistent corneal haze, decreased visual acuity, and corneal thinning and flattening was noted. Pachymetry was 484 µm in the right eye and UDVA was 20/40 (Supplemental Figure 1, available at http://links.lww.com/JRS/A836). In the following 2 weeks, UDVA improved to 20/25. 6 months after the initial presentation, UDVA was unchanged and faint central corneal haze was noted on examination (Figure 2JOURNAL/jcrs/04.03/02158034-202304000-00020/figure2/v/2023-03-24T200747Z/r/image-tiff). Of interest, her family history is significant for her younger 16-year-old brother with 3 prior episodes of a similar type of keratitis/keratopathy over the course of 2 years in both eyes with similar central paracentral corneal haze, thinning, and flattening and similar confocal findings (Figure 3JOURNAL/jcrs/04.03/02158034-202304000-00020/figure3/v/2023-03-24T200747Z/r/image-tiff). He also was unresponsive to topical antibiotics and antivirals except topical chlorhexidine. Her brother has been our patient for the last several years prior to her first visit to our clinic. What is your diagnosis? What medical diagnostic tests, if any, would you recommend? Is this an infectious or simply an inflammatory response? Is there any genetic or familial predisposition?

Peters Anomaly: Novel Non-Invasive Alternatives to Penetrating Keratoplasty.

BACKGROUND: Peters' anomaly (PA) is the most commonly encountered congenital corneal opacity (CCO) and displays a wide phenotypical range. The relatively recent adoption of high-quality anterior segment imaging in the form of high-frequency ultrasound biomicroscopy and anterior segment optical coherence tomography has aided in the accurate diagnosis of CCOs, facilitated distinction of PA from "pseudo-Peters' anomaly," and aided in prognostication and surgical risk stratification in PA. While the definitive management of PA, especially the more severe forms, is penetrating keratoplasty (PK), long-term success rates have overall been disappointing. This spurred the development of more non-invasive procedures, such as optical iridectomy and the more recently described selective endothelial removal, which represent viable alternatives to PK, at least in the less severe phenotypes of PA. METHODS: Literature searches for the components of this review were performed using PubMed, in September 2021. The following keywords and their iterations were employed for the searches: "Peters' anomaly," "anterior segment dysgenesis," "kerato-irido-lenticular dysgenesis," "congenital corneal opacities." These were entered into the PubMed search engine, revealing 2852 related articles. The inclusion criteria included publications in the English language, specific to Peters' anomaly. Fifty-five studies that were published as systematic reviews or as nonrandomized comparative studies (cohort or case series) on the topic of Peters' anomaly were finally selected for this review. RESULTS: This review provides a summary of Peters' anomaly in the context of advances in diagnosis, classification, and genotype-phenotype correlation of congenital corneal opacities, with a focus on penetrating keratoplasty, its outcomes, and non-invasive surgical options. While conservative therapies such as spontaneous clearing, mydriatic eye drops, and optical iridectomy may have variable success in milder variants of PA, penetrating keratoplasty in these eyes is fraught with several challenges and typically results in poor long-term functional outcomes. The management strategy depends on several variables such as phenotypical severity of PA, laterality, age at presentation, and capacity to adhere to the follow-up schedule. Notwithstanding the choice of treatment, it is essential that early and aggressive amblyopia therapy, a thorough systemic examination, and appropriate referral are undertaken for all patients of PA. CONCLUSION: Peters' anomaly has seen recent advances in diagnosis, but treatment options remain limited. Focus directed towards less-invasive alternatives to keratoplasty may yield better functional outcomes.

Subjective and objective evaluation of corneal haze after accelerated corneal crosslinking for corneal ectasias.

PURPOSE: To evaluate the relationship between subjective (slit lamp examination [SLE]) and objective (densitometry) measurements of corneal haze after accelerated corneal crosslinking (aCXL), assess the relationship between densitometry and corrected distance visual acuity (CDVA), and determine the effect of baseline characteristics on densitometry after aCXL in eyes with progressive keratoconus and other ectasias. SETTING: Kensington Eye Institute and Bochner Eye Institute, Toronto, Canada. DESIGN: Retrospective analysis of a prospective interventional cohort study. METHODS: Scheimpflug-derived corneal densitometry, CDVA, maximum keratometry (Kmax ), and central corneal thickness were measured preoperatively and up to 1 year after aCXL, and post-operative haze was estimated with SLE (n = 483 eyes). A random effect model was used to examine the relationship between post-operative subjective haze with SLE and densitometry. Linear mixed models were used to examine the relationship between densitometry, pre-operative baseline characteristics, and CDVA. RESULTS: There was a significant association between subjective haze with SLE and densitometry (p < 0.001). There was a significant relationship between CDVA and densitometry: for every 10 GSUs of increased densitometry in the 0-2 mm zone, CDVA worsened by approximately half a Snellen line (p < 0.001). Age and pre-operative Kmax were significant predictors of densitometry. For every 10 years of age, densitometry increased by 0.68 GSUs (95% CI [0.27 to 1.07], p < 0.001). For every 10 D of increased preoperative Kmax , densitometry increased by 0.69 GSUs (95% CI [0.41 to 0.98], p < 0.001). CONCLUSIONS: Subjective haze after aCXL estimated with SLE, is significantly associated with densitometry. Increased densitometry after aCXL is associated with a reduction in CDVA.

Progeroid syndrome of De Barsy - a case report and review of ophthalmic literature.

BACKGROUND: This report describes a very rare case of progeroid syndrome of De Barsy (Cutis laxa-corneal clouding syndrome). MATERIALS AND METHODS: A 2 year-old child presented to the pediatric ophthalmology outpatients with bilateral congenital corneal opacification along with dysmorphic facial features, including loose wrinkled skin, progeroid appearance, delayed milestones, short stature, multiple hyper-extensible joints, muscular hypotonia, pectus excavatum and congenital dislocation of the hip joint. The child underwent a detailed ophthalmic work up and systemic evaluation by a clinical geneticist. RESULTS: Ophthalmic management in the form of bilateral sequential penetrating keratoplasties and a left eye trabeculectomy for medically uncontrolled angle-closure glaucoma was performed. Visual rehabilitation with glasses and amblyopia therapy is ongoing. Histopathology of the corneal button revealed loss of the bowman's layer which was replaced by a fibrous pannus while the stroma showed loss of stromal lamellar architecture with anterior and mid stroma showing vascularization. Genetic testing confirmed a mutation in the PYCR1 gene for a homozygous autosomal recessive cutis laxa type IIB. CONCLUSIONS: Although rare, De Barsy syndrome is an important cause of corneal opacification at birth with multiple systemic abnormalities that requires intervention.

Variable phenotype of secondary congenital corneal opacities associated with microphthalmia with linear skin defects syndrome.

To describe the anterior segment (AS) findings in patients with microphthalmia with linear skin defects syndrome (MLS), also known as microphthalmia, dermal aplasia, and sclerocornea (MIDAS). A retrospective chart review was conducted to identify patients with a diagnosis of MLS syndrome seen at UPMC Children's Hospital of Pittsburgh. Ophthalmic examination, high-frequency ultrasound, AS optical coherence tomography, and molecular testing were reviewed. Five female patients (10 eyes) were identified. One eye was anophthalmic, one was in a status post penetrating keratoplasty, and eight eyes presented with congenital corneal opacity (CCO). Of these, one showed a normal lens and a very small faint CCO; five showed congenital aphakia and characteristic silvery appearance of the cornea with vascularization; and two showed irido-corneal adhesions in association with normal or abnormal lens and localized avascular CCO. Genetic testing was performed and revealed involvement of HCCS in four patients. In MLS patients, kerato-irido-lenticular dysgenesis can be associated with secondary CCO. It is important to distinguish these CCO from sclerocornea, in order to refine the appropriate management and counseling the parents about the prognosis.