BACKGROUND: Congenital glaucoma associated with Roberts syndrome (RS) is an unusual and unique condition. No previous report describes this association. A multidisciplinary approach including molecular studies were conducted to reach the final diagnosis.
METHODS: We present a rare case of a 1-wk-old male with RS associated with bilateral congenital glaucoma, left ectopic kidney, and left-hand rudimentary digits. A comprehensive approach was applied by which bilateral non-penetrating glaucoma surgery was performed with good control of intraocular pressure for more than 6 mo. Cytogenetic and molecular testing were conducted and revealed normal measurements.
CONCLUSIONS: This report described a case of a male baby with clinical features of RS but with a negative molecular analysis, presenting with left-hand rudimentary digits, bilateral congenital glaucoma, and left ectopic kidney. To the best of our knowledge, this is the first case reported with phocomelia, bilateral congenital glaucoma, and unilateral ectopic kidney.

UNASSIGNED: To describe the case of a 9-year-old boy with congenital glaucoma secondary to Klippel - Trenaunay - Weber Syndrome (KTW) with a history of trabeculotomy in both eyes (BE) and further trabeculectomy in the left eye (LE) presented with high intraocular pressure (IOP) and progression in the LE despite maximum tolerated medical therapy.
UNASSIGNED: GATT surgery was performed firstly in the LE, followed by the right eye (RE) two months apart since the IOP in the RE started to increase later on. First post-operative day the IOP was under 15 mmHg. In the last visit, 6 months after the first surgery, IOPs were 10 and 11 mmHg RE and LE, on one fixed combination; slit lamp examinations were normal with wide open angles and a good view of the Schlemm\'s Canal (SC) posterior wall.
UNASSIGNED: GATT surgery can be done after failed incisional surgery in children with glaucoma secondary to KTW syndrome.

We describe the case of a 4-month-old boy who presented with bilateral congenital cataract and high intraocular pressure (IOP) in the left eye, followed by mental retardation and delayed motor development. Genetic investigation revealed the boy had a splicing variant (c.940-11G>A) of the oculocerebrorenal syndrome of Lowe (OCRL) gene. The boy underwent a lensectomy for congenital cataract in his right eye, and lensectomy combined with a 360° suture trabeculotomy to remove the clouded lens and to control IOP of the left eye. During postoperative one-and-a-half-year follow-up, the boy exhibited an improved visual acuity and a well-controlled IOP without the use of topical IOP-lowering medications. Lowe syndrome is a rare multisystemic disorder that is diagnosed through clinical manifestation and genetic testing. The possibility of Lowe syndrome should be considered in patients presenting with typical triad, and genetic analysis should be performed in time to confirm the diagnosis. We recommend combined cataract surgery and minimally invasive glaucoma surgery (MIGS) as a safe, feasible, and efficient method to treat congenital cataract and glaucoma in Lowe syndrome patients.

Neonatal diabetes and congenital hypothyroidism (CH) syndrome is a rare condition caused by homozygous or compound heterozygous mutations in the GLIS3 gene. Small for gestational age, congenital glaucoma, polycystic kidney disease, cholestatic hepatic fibrosis, pancreatic exocrine insufficiency, developmental delay, dysmorphic facial features, sensorineural deafness, osteopenia, and skeletal anomalies are other accompanying phenotypic features in the 22 cases described so far. We present a male patient with neonatal diabetes, CH, congenital glaucoma, developmental delay, and facial dysmorphism. During the patient’s 17-year follow-up, no signs of exocrine pancreatic insufficiency, liver and kidney diseases, deafness, osteopenia, and bone fracture were observed. A homozygous exon 10-11 deletion was detected in the GLIS3 gene. We report one of the oldest surviving GLIS3 mutation case with main findings of neonatal diabetes and CH syndrome to contribute to the characterization of the genotypic and phenotypic spectra of the syndrome.

Mutations in GLIS3 cause a rare syndrome characterized by neonatal diabetes mellitus (NDM), congenital hypothyroidism, congenital glaucoma and cystic kidneys. To date, 14 mutations in GLIS3 have been reported, inherited in an autosomal recessive manner. GLIS3 is a key transcription factor involved in β-cell development, insulin expression, and development of the thyroid, eyes, liver and kidneys.
We describe non-identical twins born to consanguineous parents presenting with NDM, congenital hypothyroidism, congenital glaucoma, hepatic cholestasis, cystic kidney and delayed psychomotor development. Sequence analysis of GLIS3 identified a novel homozygous nonsense mutation, c.2392C>T, p.Gln798Ter (p.Q798*), which results in an early stop codon. The diabetes was treated with a continuous subcutaneous insulin infusion pump and continuous glucose monitoring. Fluctuating blood glucose and intermittent hypoglycemia were observed on follow-up.
This report highlights the importance of early molecular diagnosis for appropriate management of NDM. We describe a novel nonsense mutation of GLIS3 causing NDM, extend the phenotype, and discuss the challenges in clinical management. Our findings provide new areas for further investigation into the roles of GLIS3 in the pathophysiology of diabetes mellitus.

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.

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UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.

UNASSIGNED: To describe our experience of Gonioscopy-Assisted Transluminal Trabeculotomy (GATT) in four eyes with infantile primary congenital glaucoma (PCG).
UNASSIGNED: We report the first two GATT procedures performed in six-month-old infants with PCG. We also report the same procedure in two eyes of a two-year-old boy with PCG who had previous goniotomies with subsequent peripheral anterior synechiae formation. In all four eyes, the IOP remained under 20 mmHg at years three and four postoperatively, without glaucoma medication or conjunctival surgery.
UNASSIGNED: Our cases confirm that GATT is an alternative to traditional ab externo glaucoma surgery in PCG and can be successfully performed within the first months of life, or in infants with failed or partially functioning goniotomies, avoiding the need for invasive conjunctival or scleral surgery.

The neonate has a horizontal diameter of the cornea, usually up to 10mm with growth up to 2mm in the first 2 years of life. We report a case of megalocornea, a rare, recessive, X-linked disorder in a 3-month-old child, seeking to review what the medical literature brings information about the condition, as well as diagnostic and follow-up parameters, of its main differential diagnoses.