Pathological findings in enucleated eyes of patients with neurofibromatosis type 1: report of a case with 15-year follow-up and review of 14 patients in the literature.

BACKGROUNDS: Iris nodules are frequently noted as clinical manifestations of neurofibromatosis type 1 but the other intraocular manifestations are rare. The purpose of this study is to present a patient with a phthisic eye who underwent enucleation for a cosmetic reason after 15-year follow-up and also to review 14 patients with enucleation described in the literature. CASE PRESENTATION: A 17-year-old man with neurofibromatosis type 1 from infancy underwent the enucleation of phthisic left eye and also had the resection of eyelid subcutaneous mass lesions on the left side for a cosmetic reason. He had undergone four-time preceding surgeries for eyelid and orbital mass reduction on the left side in childhood and had developed total retinal detachment 10 years previously. Pathologically, the enucleated eye showed massive retinal gliosis positive for both S-100 and glial fibrillary acidic protein (GFAP) in the area with involvement of the detached retinal neuronal layer, together with a more fibrotic lesion along the choroid which were, in contrast, negative for both S-100 and GFAP. The choroid, ciliary body, and iris did not show apparent neurofibroma while episcleral neurofibroma was present. LITERATURE REVIEW: In review of enucleated eyes of 14 patients in the literature, buphthalmic eyes with early-onset glaucoma on the unilateral side was clinically diagnosed in 9 patients who frequently showed varying extent of hemifacial neurofibromatosis which involved the eyelid and orbit on the same side. Pathologically, neurofibromas in varying extent were found in the choroid of 12 patients. One patient showed choroidal malignant melanoma on the left side and fusiform enlargement of the optic nerve on the right side suspected of optic nerve glioma. The phthisic eye in another patient showed massive retinal gliosis similar to the present patient. CONCLUSIONS: In summary of the 15 patients with neurofibromatosis type 1, including the present patient, buphthalmic or phthisic eyes with no vision were enucleated for cosmetic reasons and showed choroidal neurofibroma in most patients and massive retinal gliosis in two patients including the present patient.

Use of the Aurolab Aqueous Drainage Implant as a buckling element in pediatric retinal detachment with a preexisting glaucoma drainage device.

Purpose: To describe a novel technique for repair of rhegmatogenous retinal detachment in an eye with a previous non-valved glaucoma drainage device, the Aurolab Aqueous Drainage Implant (AADI). Observations: A 5-year-old child with bilateral primary congenital glaucoma presented with an inferior retinal detachment (RD) in the left eye. The left eye had a history of multiple surgical interventions including combined trabeculotomy and trabeculectomy done twice, AADI implantation and subsequently phacoaspiration with IOL implantation, 18 months prior to presentation. The left eye retinal detachment was managed by scleral buckling technique using the plate of the AADI as a buckling element without its explantation. Conclusions: AND IMPORTANCE: Management of retinal detachment in eyes with a pre-existing glaucoma drainage device (GDD) is uniquely challenging. Explantation of the GDD would likely result in intractable glaucoma post-operatively, requiring another surgery. Use of the trimmed plate of the GDD itself as the buckling element helped in settling the RD and preserving intraocular pressure control.

Unilateral buphthalmos, corneal staphyloma and corneal fistula caused by pathogenic variant in the PITX3 gene: a case report.

INTRODUCTION: PITX3 has been reported to be associated with congenital cataracts, anterior segment mesenchymal dysgenesis, Peters' anomaly, and microphthalmia. In this case, an infant with unilateral buphthalmos, corneal staphyloma and corneal fistula carrying a variant in PITX3 was reported. CASE DESCRIPTION: We describe a 4-month-old female infant who was referred to our Eye Clinic because of gradual enlargement of the eyeball in the right eye and whitish opacity in both eyes. Buphthalmos with long axial length (22.04 mm), macrocornea with diffuse corneal oedema and opacity (14.50 mm*14.50 mm) and high intraocular pressure (23.78 mmHg) were detected in the right eye. Microphthalmia with short axial length (16.23 mm), microcornea with diffuse corneal oedema and opacity (7.50 mm*6.50 mm) were detected in the left eye. A 360° trabeculotomy was performed for the right eye. However, corneal staphyloma and corneal fistula in the right eye were detected 6 months after the surgery. A variant in exon 4 of PITX3 (c.640_656dup (p. Gly220Profs*95)) was identified in the proband but was not detected in her healthy parents. CONCLUSION: A novel phenotype characterized by unilateral buphthalmos, corneal staphyloma and corneal fistula in an infant were reported to be associated with PITX3 in our study. Our study expands the scope of the clinical heterogeneity of PITX3 variants. It also improves our understanding and increases the attention given to patients with PITX3 variants.

Juvenile Xanthogranuloma Presented with Buphthalmos and Corneal Clouding in Neonatal Period: A Case Report.

Aim: To report an ocular juvenile xanthogranuloma (JXG) case presented with buphthalmos, corneal cloudiness, and normal intraocular pressure (IOP) in the neonatal period and treated with Ahmed glaucoma valve (AGV) implantation. Background: JXG is a rare disorder predominantly seen in infants, but the neonatal presentation is extraordinary. Although spontaneous hyphema is a common presenting sign in JXG, buphthalmos and corneal opacity in the neonatal period were reported only in one case, which had high IOP values at presentation. Case presentation: Sixteen-day-old male patient presented with buphthalmos, diffuse corneal clouding, and 11 mm Hg of IOP value in the right eye. IOP increased to 28 mm Hg three weeks later, and spontaneous hyphema developed, which did not respond to antiglaucomatous medications and topical corticosteroids. AGV was implanted, and the IOP decreased to 13 mm Hg postoperatively. In the follow-ups, numerous firm yellowish nodules were noticed on the patient's skin during the examination under general anesthesia. Histopathological examination of the skin nodules was compatible with the diagnosis of JXG. Lens subluxation and phacodonesis were developed during the follow-up and were managed with pars plana lensectomy. After a silent period of 3 months, epithelial ingrowth was determined around the side port entrance. Unfortunately, the ingrowth did not respond to cryotherapy and resulted in phthisis bulbi. Pathological evaluation of the enucleated phthisic eye revealed posterior segment involvement. Conclusion: Ocular JXG can be present with buphthalmos, corneal opacity, and normal IOP values without any skin lesions in the neonatal period. Neonatal presentation of JXG may be associated with limited medical therapy response and aggressive disease course. Clinical significance: This case report introduces the second ocular JXG case, which presented with buphthalmos and corneal cloudiness, and the third pathologically proven posterior segment involvement of JXG in the literature. How to cite this article: Dericioglu V, Sevik MO, Eraslan M, et al. Juvenile Xanthogranuloma Presented with Buphthalmos and Corneal Clouding in Neonatal Period: A Case Report. J Curr Glaucoma Pract 2022;16(2):128-131.

Choroidal ganglioneuromas in Francois variant neurofibromatosis-1: A rare retinoblastoma mimic.

Neurofibromtosis-1 (NF-1) is the commonest oculo-neuro-cutaneous syndrome with multiple ocular manifestations. Reporting three children who presented with unilateral glaucoma (buphthalmos), ipsilateral facial hemihypertrophy, and eyelid plexiform neurofibroma: completing the triad of François syndrome, a rare NF1 variant. Two presented with leukocoria and were referred to as retinoblastoma suspects. Histopathology showed ganglioneuroma, a benign choroidal tumor, associated with NF-1, which does not need treatment. Knowledge of this rare condition avoids misdiagnosis of retinoblastoma, prevents aggressive management, and the associated psychological impact.

Factors Affecting Final Surgical Outcome of Combined Trabeculotomy-Trabeculectomy in Primary Congenital Glaucoma.

PURPOSE: To evaluate different pre-operative variables on the success of combined trabeculotomy-trabeculectomy (CTT) surgery in patients with primary congenital glaucoma (PCG) to predict those at higher risk for surgical failure and for proper parent counseling. PATIENTS AND METHODS: Sixty-three eyes of patients with PCG were treated either with CTT without augmentation, or CTT augmented with mitomycin-C (0.2 mg/mL) in both subconjunctival space and under scleral flap for 3 minutes, or with CTT augmented with a collagen implant under both the scleral flap and the conjunctiva. Cases showed surgical failure was reported and evaluated in relation to different pre-operative variables. RESULTS: Complete success (IOP ≤21 mmHg) was achieved in 52 cases (82.5%). Cumulative success probability was calculated using Kaplan-Meier survival analysis, proving that higher pre-operative intraocular pressure (IOP) was associated with higher failure rates (28.6% for pre-operative IOP ≥30 mmHg versus 4.8% for IOP <30 mmHg), with P value = 0.007. CONCLUSION: CTT is an effective surgical intervention in PCG patients without sight threatening complications. Univariate survival analysis showed higher rates of surgical failure in patients with higher pre-operative IOP, while other pre-operative variables were irrelevant.

Ocular manifestations in a patient with Dandy-Walker malformation: A case report.

We present a unique case of a ten-month-old boy with a protruding left globe and vitreous haemorrhaging, and later being diagnosed as a case of a dandy-walker syndrome (DWS) with buphthalmos and vitreous haemorrhage. Treatment is depending on the symptoms reported, thus close monitoring and a multidisciplinary approach are essential. We would like to recommend that even if there are no cardinal symptoms of DWS, paediatric patients with ocular signs should have Dandy walker Malformation (DWM) considered as a differential diagnosis.

Outcomes of surgery for epiblepharon accompanied with lower eyelid retraction secondary to buphthalmos in children.

IMPORTANCE: In cases of epiblepharon with lower eyelid retraction secondary to glaucoma, correcting epiblepharon alone is ineffective. Combined surgery should be performed to obtain satisfactory outcomes. OBJECTIVE: To investigate outcomes after surgery to correct epiblepharon with lower eyelid retraction secondary to buphthalmos in children. METHODS: A retrospective analysis of six eyes in four patients was performed included lower lid retractor recession combined with marginal rotation with tarsal fixation. The margin reflex distance-2, lagophthalmus, resolution of clinical symptoms, and complications were assessed during 6 to 12 months of follow-up. RESULTS: In all cases, epiblepharon and lagophthalmus were corrected, symptoms of photophobia and epiphora were relieved, and the corneal epithelium was repaired. The margin reflex distance-2 decreased and remained normal during the follow-up period, but slightly regressed within 6 months postoperatively. INTERPRETATION: Epiblepharon caused by buphthalmos in children is often associated with lower eyelid retraction. Lower lid retractor recession combined with marginal rotation with tarsal fixation fundamentally solves the problems of high eyelid tension, lower eyelid retraction, and epiblepharon and reduces the recurrence rate.

Megalocornea, anterior megalophthalmos, keratoglobus and associated anterior segment disorders: A review.

Megalocornea and anterior megalophthalmos (megalocornea spectrum) disorders are typically defined by corneal diameter > 12.5 mm in the absence of elevated intraocular pressure. Clinical features overlap with keratoglobus but are distinct from buphthalmos and severe (globus) keratoconus. Megalocornea spectrum disorders and keratoglobus are primarily congenital disorders, often with syndromic associations; both can present with large and thin corneas, creating difficulty in diagnosis, however, only keratoglobus is typically progressive. Molecular genetics provide significant insight into underlying aetiologies. Nonetheless, careful clinical assessment remains intrinsic to diagnosis. Surgical management can be challenging due to the enlarged ciliary ring and weakened zonules in megalocornea spectrum disorders and the extreme corneal thinning of keratoglobus. In this review, the established literature on measurement of corneal diameter, diagnosis of megalocornea, anterior megalophthalmos and keratoglobus, differentiation from severe keratoconus, recent molecular genetics research and key surgical modalities in the management of these rare disorders are outlined and discussed.

Epiblepharon in a Case of Anterior Megalophthalmos: A Diagnostic Red Herring.

Epiblepharon is a condition characterized by the presence of a congenital horizontal fold of skin near the upper or lower eyelid margin and rarely requires intervention. In this communication, we present the case of a five-month-old child who had enlarged eyes, tearing, and intense photophobia; and was referred to as a case of congenital glaucoma. Congenital or infantile glaucoma can, indeed present with enlarged eyes, watering, and photophobia. However, in the absence of optic disc cupping and elevated intraocular pressures, a diagnosis of anterior megalophthalmos should be considered, especially in the presence of a very deep anterior chamber. Subsequent evaluation in our case established the diagnosis of anterior megalophthalmos along with concomitant bilateral epiblepharon. The child underwent surgery to correct the epiblepharon, following which, the tearing and photophobia resolved. The clinical characteristics of anterior megalophthalmos and the causality between an enlarged globe and epiblepharon are discussed in this article.

Pars plana vitrectomy with/without encircling scleral band for treatment of retinal detachment associated with buphthalmos.

BACKGROUND: To evaluate the results of pars plana vitrectomy (PPV) and silicone oil (SO) tamponade with or without encircling scleral band for repair of rhegmatogenous retinal detachment (RRD) in children with buphthalmos. PATIENTS AND METHODS: Retrospective comparative nonrandomized interventional case series including consecutive patients who underwent PPV with or without encircling band and SO tamponade for RRD associated with buphthalmos. RESULTS: The study included 19 eyes of 19 children. Mean age was 8 years, range 3-16 years. Mean follow-up period was 28 months, range 19-63 months. Globe survival has been achieved in 15 out of 19 eyes (79%). Phthisis bulbi was reported in four cases (22%). Eight patients (42%) achieved ambulatory vision. Most eyes initially achieved anatomical success. CONCLUSION: Despite the poor visual and anatomical results of RRD repair in eyes with buphthalmos, globe survival might be the rationale for surgery in such cases. Globe preservation could avoid the psychological and social consequences of phthisis bulbi in non-operated children.

Alazami syndrome: Report of three Indian patients with phenotypic spectrum from adolescence to adulthood.

Alazami syndrome (ALAZS) (MIM 615071) is a rare autosomal recessive disorder characterized by short stature, dysmorphic facial features, developmental delay, and impaired intellect. It was first reported in a Saudi Arabian family in 2012. Three Indian patients affected with ALAZS, one boy aged 13 years and other two sisters in their 40s are presented. These patients had few unreported dysmorphic facial features: high arched eyebrows and dental overcrowding. No microcephaly was noted in the sisters. One of the sisters did not have short stature. The boy also presented with unilateral buphthalmos of left eye. All three of them have been identified to harbor novel variants in LARP7.

Primary Congenital Glaucoma among the Children Under 3 Years of Age in the Outpatient Department in a Tertiary Care Hospital: A Descriptive Cross-sectional Study.

INTRODUCTION: Primary congenital glaucoma is a rare vision-threatening condition of children. Primary congenital glaucoma though a rare disease it is the most common cause of childhood glaucoma with potency to cause blindness. This study was undertaken to find the prevalence of the children with primary congenital glaucoma under 3 years of age in a tertiary care hospital. METHODS: This was a descriptive cross-sectional study conducted at a tertiary eye center in Nepal in children (≤ 3 years) presented in the outpatient department of a tertiary eye hospital between June 2017 and June 2020. The study was approved by the hospital review committee and adhered to the declaration of Helsinki. A convenient sampling method was used. Point estimate at 95% Confidence Interval was calculated with frequency distribution. Data analysis was conducted using Statistical Package for the Social Sciences. RESULTS: Out of total children under 3 years who presented to the outpatient department, 46 (0.31%) at 95% Confidence Interval (0.30-0.32) had primary congenital glaucoma. Among them, 30 children (65.2%) had bilateral involvement. Mean intraocular pressure was 42.40±8.15mm Hg. The mean age of initial presentation, horizontal corneal diameter, and axial length were 12.07±8.9 months, 12.95±1mm, and 23.89±1.7mm respectively. Consanguinity was observed in 12 (26%) children. CONCLUSIONS: From the study, we conclude that there was a low prevalence of primary congenital glaucoma among children under 3 years of age who presented to the outpatient department in a tertiary care hospital.

Antemortem diagnosis of congenital glaucoma in a white-bellied caique (Pionites leucogaster).

A 34-day-old, male, white-bellied caique (Pionites leucogaster) was presented for a complaint of bilateral buphthalmos. Clinical examination was unremarkable apart from the ophthalmic findings. The ophthalmologic examination was negative for direct, consensual, and dazzle reflexes in both eyes. The intraocular pressure exceeded 40 mm Hg OU. Fluorescein stain demonstrated corneal surface lesions suggestive of exposure keratopathy subsequent to bilateral buphthalmos. Diagnostic imaging tests were conducted to perform ocular biometric measurements and investigate the intraocular structures, including the iridocorneal angle and lens, by means of high-resolution ultrasonography (HRUS). The presence of congenital glaucoma in this young parrot was strongly suspected after clinical and ophthalmological examination and the results of diagnostic imaging. Pharmacological treatment to reduce intraocular pressure was initiated using dorzolamide hydrochloride 2% and timolol maleate 0.5%. A month later, the parrot's eyes did not show any visual improvement, but the intraocular pressure had returned to normal. The parrot was unable to feed itself and died during a feeding procedure. Postmortem examination revealed ab ingestis pneumonia. Both eyes were submitted for histopathology, with severe anterior segment dysplasia and goniodysgenesis found OU. Histological findings added to the clinical presentation, the ophthalmologic examination and the imaging findings, confirmed the presence of congenital glaucoma.

Toric intraocular lens implantation - atypical cases.

Objective: To describe the results of toric intraocular lens (IOL) implantation in three atypical cases (four eyes) with cataract and corneal astigmatism: one with bilateral keratoconus, one with pellucid marginal degeneration and one with buphthalmos due to congenital glaucoma. Methods: Three patients (four eyes) with corneal astigmatism (one with bilateral keratoconus, one with pellucid marginal degeneration and one with buphthalmos due to congenital glaucoma) underwent cataract surgery by standard phacoemulsification and the implantation of toric IOLs in the capsular bag. The presence of corneal astigmatism was identified by automated keratometry and confirmed by Scheimpflug-based corneal tomography. The toric IOL implanted in all cases was a single-piece AcrySof Toric IOL (Alcon Laboratories, Inc.). Postoperative visual acuity, the reduction in the refractive astigmatism, the spherical equivalent (SE) and the rotational stability of the toric IOL were recorded for all the patients. Results: Visual acuity increased and the refractive astigmatism decreased in all cases. In Case 1, the right eye achieved a postoperative uncorrected visual acuity (UCVA) of 20/ 20, a decrease in the refractive astigmatism from -3 DCyl to -0.75 DCyl and a spherical equivalent (SE) of -0.25. The left eye presented with a best-corrected visual acuity (BCVA) of 20/ 20, a decrease in the refractive astigmatism from -1.50 DCyl to -1.25 DCyl and a SE of -0.25. In Case 2, the postoperative UCVA was 20/ 20, with a decrease in the refractive astigmatism from -5.5 DCyl to -1 DCyl and a SE for the right eye of 0.00 D. In Case 3, the postoperative BCVA was 20/ 20, with a decrease in the refractive astigmatism from -4.75 DCyl to -1.50 DCyl and a SE of +1.25. No misalignment of the axis of the toric IOL was observed in any patient at subsequent follow-ups. The postoperative visual acuity was satisfactory for all the patients. Conclusions: Toric intraocular lenses can be an effective option for implantation in patients with cataract and corneal astigmatism in atypical situations such as mild to moderate keratoconus, pellucid marginal degeneration and buphthalmos due to congenital glaucoma. Predicting the refractive outcome is difficult in atypical cases and the surgeon should have accuracy and consistency in the preoperative measurements, for achieving satisfactory postoperative results.

A rare case of neurofibromatosis type I with unilateral congenital ectropion uveae and glaucoma.

PURPOSE: Neurofibromatosis Type I (NF-1) is a neurocutaneous disease affecting the skin, eye and peripheral nervous system. Congenital glaucoma is a rare association, but can be a prelude to the diagnosis of NF-1 later in life. We report this unusual association in a child and discuss the possible underlying pathophysiologic mechanisms. OBSERVATIONS: A nine year old female child on treatment for glaucoma in the right eye was referred to us for definitive management. Her ocular evaluation was remarkable for reduced visual acuity, megalocornea with buphthalmos, congenital ectropionuveae, Lisch nodules and glaucomatous optic neuropathy in the right eye. Systemic evaluation revealed café-au-lait spots on the chest and back. A diagnosis of Neurofibromatosis Type I with congenital ectropion uveae and glaucoma was arrived at and neuroimaging failed to detect any optic pathway gliomas. In view of advanced glaucomatous neuropathy, a conservative therapy was recommended. CONCLUSIONAND IMPORTANCE: Unilateral congenital glaucomas with ectropion uveae are likely to be associated with NF-1. These children should be monitored closely for glaucoma progression and may require neurological evaluation including imaging studies to exclude optic pathway gliomas.

Syndromic Multisuture Craniosynostosis With Associated Anterior Segment Dysgenesis, Optic Nerve Hypoplasia, and Congenital Glaucoma.

Patients with craniosynostosis with subnormal vision due to papilledema and/or exposure-related corneal decompensation are well documented in the literature; however, there is only a single prior documented case of vision compromise secondary to anterior segment dysgenesis and glaucoma in this patient population. This report highlights a case of syndromic craniosynostosis with advanced corneal decompensation and anterior segment dysgenesis that was masked and ultimately delayed the diagnosis of congenital glaucoma.