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.

OCT Angiography in Noninfectious Uveitis: A Description of Five Cases and Clinical Applications.

BACKGROUND: Optical coherence tomography angiography (OCTA) is a noninvasive imaging modality used to analyze the retinochoroidal vasculature and detect vascular flow. The resulting images can be segmented to view each vascular plexus individually. While fluorescein angiography is still the gold standard for the diagnosis of posterior uveitis, it has limitations, and can be replaced by OCTA in some cases. METHODS: This case series describes five patients with posterior noninfectious uveitis and their description by OCTA. RESULTS: Cases included lupus retinopathy (n = 1) for which OCTA showed ischemic maculopathy as areas of flow deficit at the superficial and deep capillary plexus; choroidal granulomas (n = 1) with a non-detectable flow signal in the choroid; active punctate inner choroiditis and multifocal choroiditis (n = 1) with OCTA that showed active inflammatory chorioretinal lesions as non-detectable flow signals in choriocapillaris and choroid; dense type 2 inflammatory secondary neovascularization (n = 1) associated with active choroiditis; and acute posterior multifocal placoid pigment epitheliopathy (APMPPE) (n = 1) without flow abnormalities at the superficial and deep retinal plexuses but non-detectable flow at the levels of the choriocapillaris and choroid. CONCLUSIONS: Ophthalmologists can use OCTA to identify inflammatory changes in retinal and choroidal vasculature, aiding in the diagnosis, management, and monitoring of posterior uveitis.

Technique for the Management of Extensive Ocular Surface Lipodermoid Involving the Cornea of Children.

PURPOSE: Ocular surface lipodermoids with corneal involvement may require surgical intervention; if deep, ocular surface reconstruction with lamellar corneal tissue or amniotic membrane may be needed. We describe a staged technique using autologous ipsilateral simple limbal epithelial transplantation. METHODS: After verifying sparing of Descemet membrane, the conjunctival portion of the lipodermoid was debulked in the first stage. Six weeks later, the corneal portion was excised, followed by autologous ipsilateral simple limbal epithelial transplantation to promote rapid reepithelialization of the residual stromal bed. Temporary tarsorrhaphy was used for patient comfort and to expedite ocular surface healing. RESULTS: Three eyes of 3 children with grade III large ocular surface lipodermoids that encroached the visual axis and hindered proper eyelid closure underwent surgery without complications. In all cases, the visual axis was cleared and eyelid closure was improved. At the last follow-up (mean 35.7 months, median 36.0 months), the bed of the original dermoid showed minimal haze in 1 case, while 2 eyes developed small pseudopterygium; best spectacle-corrected visual acuity improved from 20/200 to 20/70 in the first case, from fix and follow to 20/50 in the second case, and remained fix and follow in the last case, but this child had congenital hydrocephalus with severe developmental delay. CONCLUSIONS: This surgical technique is a promising option for children with grade III large ocular surface lipodermoids given its effectiveness in clearing the visual axis and in improving eyelid closure. Moreover, it does not require lamellar corneal transplantation or intervention to the fellow eye.

Pragmatic adjunctive usage of netarsudil: A retrospective chart review from a tertiary care center.

Purpose: This retrospective chart review of netarsudil (Rhopressa) characterizes intra-ocular pressure (IOP) reduction, drug tolerance, drug cost, and compliance in a tertiary university Midwest clinic in a variety of glaucoma diagnoses on patients prescribed netarsudil 01/2017 to 5/2020. Methods: Patient demographics, primary diagnosis, indication for medication, prescription date, prescription fill status, duration of use, discontinuation reason, and number of IOP-lowering medications were noted. Confounding medication changes were excluded from IOP analysis. The IOP difference between the first visit after starting netarsudil and the baseline (mean before starting netarsudil on the stable medication regimen) was calculated. Results: A total of 133 patients were prescribed netarsudil (age 69 ± 20 years, 59% females, 79% white, 86% primary glaucoma) as adjunct glaucoma medication (mean medications 3.2 ± 0.9). Indications were lowering IOP (mean baseline IOP 20.0 ± 6 mmHg) and drug regimen simplification. Prescription was not filled by 22/133 subjects because of the cost (68%) and the need for surgery (23%). No demographic factors were associated with prescription fill status. A total of 101 eyes of 76 patients were used for IOP analysis. The mean change in IOP was -0.8 ± 6.4 mmHg, (IOP decrease in 67%, increase or no change in 33% eyes). Netarsudil was discontinued in 52% (50/96) patients; the reasons include surgery for IOP control (42%), allergies (30%), cost (14%), and paradoxical rise in IOP (12%). Conclusion: Netarsudil was used as adjunct third or fourth line medication at a glaucoma practice in Midwestern USA. 17% of prescriptions went unfilled; netarsudil was discontinued in 52% of patients. IOP response was variable in this population with severe complex glaucoma.

Fulminant Sphingomonas paucimobilis keratitis: case study and review of literature.

Sphingomonas paucimobilis is a low-virulence gram-negative bacillus known to cause various ocular infections such as endophthalmitis, panophthalmitis and keratitis that are usually associated with an underlying risk factor such as peri-partum or postpartum phase, cataract surgery, contact lens use, neurotrophic keratopathy or ocular trauma. We report a case of spontaneously occurring perforated corneal ulcer caused by the organism in a young man managed by penetrating keratoplasty. The course was followed by endophthalmitis with graft infection culminating in phthisis bulbi despite aggressive medical and surgical management. Along with reporting this case, we also present a review of literature on ocular infections caused by the same organism.

Repeat keratoplasty in failed Descemet stripping automated endothelial keratoplasty.

Purpose: To evaluate the clinical factors associated with repeat Descemet stripping automated endothelial keratoplasty (DSAEK) or penetrating keratoplasty (PKP) in cases of failed DSAEK. Methods: Retrospective observational study of cases with failed DSAEK admitted to our center for a repeat keratoplasty over 5 years (January 2013-Decemeber 2017) was undertaken. Demographic and perioperative details of all cases and type of repeat keratoplasty were recorded. Logistic regression analysis was performed to analyze the factors affecting the type of repeat keratoplasty. Results: total of 94 eyes with failed DSAEK were evaluated. Repeat DSAEK was performed in 66% and PKP in 34% of cases. Significantly increased odds for requiring PKP were observed in association with stromal scarring [odds ratio (OR) = 2.9, P = 0.018)], trainee surgeons (OR = 4.05, P = 0.008), intraoperative complications (OR = 4.58, P = 0.003), scleral fixated intraocular lens or anterior chamber intraocular lens in situ (OR = 33.8, P < 0.001), secondary glaucoma (OR = 3.02, P = 0.015), peripheral anterior synechiae (OR = 8.6, P < 0.001), preoperative corneal thickness (OR = 1.01, P < 0001), time to primary surgery (OR = 1.03, P = 0.03), post-DSAEK host thickness (OR = 1.01, P < 0.001), and time interval from graft failure to regraft (OR = 1.18, P < 0.001). All eyes with congenital hereditary endothelial dystrophy, bee-sting-induced corneal decompensation, Axenfeld-Rieger syndrome, and multiple failed grafts underwent secondary PKP. All cases (nine eyes) that required surgical intervention for secondary glaucoma underwent secondary PKP (P < 0.001). Conclusion: Repeat DSAEK is feasible in up to two-third of cases of failed DSAEK. A PKP is required in one-third of cases, and various preoperative, intraoperative and postoperative factors are associated with unsuitability for repeat DSAEK.

Extraocular muscle surgery on goats' eye: An inexpensive technique to enhance residents' surgical skills.

Hands-on resident surgical training for various ocular procedures is essential to impart good surgical skills to the budding ophthalmologists. Here in this report, we demonstrate a simple and inexpensive technique of performing extraocular muscle surgery on goats' eye. These animal eyes possess soft tissue resemblance to that of human eyes to a greater extent in terms of scleral rigidity, muscle elasticity, its width, thickness, and its insertion onto the sclera. Therefore, rectus muscle recession, resection, and plication surgeries can be performed repeatedly to improve an individual's orientation and practical experience before performing the procedure on human eyes.

Polypoidal choroidal vasculopathy: a comprehensive clinical update.

Polypoidal choroidal vasculopathy as a disease is yet to be comprehended completely. The clinical features consisting of huge serosanguineous retinal pigment epithelial and neurosensory layer detachments, although unique may closely mimick neovascular age-related macular degeneration and other counterparts. The investigative modalities starting from indocyanine angiography to optical coherence tomography angiography provide diagnostic challenges. The management strategies based on the available therapies are plenty and not vivid. A detailed review with clarifying images has been compiled with an aim to help the readers in getting a better understanding of the disease.

Phacomorphic glaucoma in a high myope with phakic intraocular lens.

We report a case of a young, one-eyed woman with high myopia who presented to our emergency department with sudden onset painful diminution of vision in the right eye after undergoing laser treatment. Her right eye had a phakic intraocular lens (pIOL) implantation 4 years back and her left eye had absent light perception. She was diagnosed as right eye lens induced secondary angle closure glaucoma with pIOL touching the corneal endothelium and left eye atrophic bulbi. She was admitted under eye emergency for medical intraocular pressure control followed by pIOL explantation with lens aspiration of the cataractous lens and posterior chamber intraocular lens implantation.

Small incision lenticule extraction (SMILE) techniques: patient selection and perspectives.

Refractive lenticule extraction is becoming the procedure of choice for the management of myopia and myopic astigmatism owing to its precision, biomechanical stability, and better ocular surface. It has similar safety, efficacy, and predictability as femtosecond laser-assisted in situ keratomileusis (FS-LASIK) and is associated with better patient satisfaction. The conventional technique of small incision lenticule extraction (SMILE) involves docking, femtosecond laser application, lenticule dissection from the surrounding stroma, and extraction. It has a steep learning curve compared to conventional flap-based corneal ablative procedures, and the surgical technique may be challenging especially for a novice surgeon. As SMILE is gaining worldwide acceptance among refractive surgeons, different modifications of the surgical technique have been described to ease the process of lenticule extraction and minimize complications. Good patient selection is essential to ensure optimal patient satisfaction, and novice surgeons should avoid cases with low myopia (thin refractive lenticules), difficult orbital anatomy, high astigmatism, or uncooperative, anxious patients to minimize complications. A comprehensive MEDLINE search was performed using "small incision lenticule extraction," "SMILE," and "refractive lenticule extraction" as keywords, and we herein review the patient selection for SMILE and various surgical techniques of SMILE with their pros and cons. With increasing surgeon experience, a standard technique is expected to evolve that may be performed in all types of cases with optimal outcomes and minimal adverse effects.