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.

BACKGROUND: Children with congenital glaucoma are often accompanied by acquired epiblepharon in the lower eyelid, which causes entropion of the lower eyelid and damages the cornea.
OBJECTIVE: To infer the possible causes of lower eyelid entropion by comparing the difference of ocular axis and corneal diameter between inverted and non-inverted ciliary eyes in children with congenital glaucoma.
METHODS: A total of 15 patients (11 males and 4 females) diagnosed with congenital glaucoma between July 2016 and January 2019 at Tongren Hospital were included. Five patients had bilateral glaucoma, and ten had unilateral glaucoma. Each patient had only one eye with lower eyelid entropion which is associated with congenital glaucoma. All the patients had no entropion in another eye. The clinical data were collected. Main outcome measures were the ocular axis and corneal diameter.
RESULTS: The average age of the 15 patients was 1.85 ± 0.49 years. Paired t-test showed that the average ocular axis of congenital glaucoma eyes with lower eyelid entropion (24.86 ± 3.44 mm) was significantly longer than that of congenital glaucoma eyes without lower eyelid entropion (20.79 ± 1.34 mm; P < 0.001). The average corneal diameter of congenital glaucoma eyes with lower eyelid entropion (13.61 ± 0.88 mm) was also significantly greater than that of congenital glaucoma eyes without lower eyelid entropion (11.63 ± 0.48; P < 0.001).
CONCLUSIONS: The rapid growth of the ocular axis and corneal diameter may be the main cause of congenital glaucoma with acquired lower eyelid entropion. Therefore, children with poor control of intraocular pressure and excessive growth of ocular axis and corneal diameter must be observed for the existence of acquired epiblepharon.

BACKGROUND: Lowe syndrome is a rare X-linked disease that is characterized by renal dysfunction, developmental delays, congenital cataracts and glaucoma. Mutations in the oculocerebral renal syndrome of Lowe (OCRL) gene are found in Lowe syndrome patients. Although loss of vision is a major concern for families and physicians who take care of Lowe syndrome children, definitive cause of visual loss is still unclear. Children usually present with bilateral dense cataracts at birth and glaucoma, which occurs in more than half of cases, either concurrently or following cataract surgery.
METHODS: A retrospective review was conducted on the prevalence and characteristics of ocular findings among families of patients with Lowe syndrome with 137 uniquely affected individuals.
RESULTS: Of 137 patients, all had bilateral congenital cataracts. Nystagmus was reported in 69.3% of cases, glaucoma in 54.7%, strabismus in 35.0%, and corneal scar in 18.2% of patients. Glaucoma was reported as the most common cause of blindness (46%) followed by corneal scars (41%). Glaucoma occurred in 54.7% of patients and affected both eyes in the majority of cases. Of these patients, 55% underwent surgery for glaucoma, while the remaining patients used medications to control their eye pressure. Timolol and latanoprost were the most commonly used medications. Although trabeculectomy and goniotomy are commonly used for pressure management, aqueous tube shunts had the best outcomes.
CONCLUSIONS: Ocular manifestations in individuals with Lowe syndrome and carriers with OCRL mutation are reported which may help familiarize clinicians with the ocular manifestations and management of a rare and complex syndrome.

OBJECTIVE: To evaluate the therapeutic effect and the safety of the treatment of congenital glaucoma through modified combined trabeculotomy-trabeculectomy.
METHODS: The clinical data of 27 cases (altogether 42 eyes), which included 7 cases of infants (10 eyes) and 20 cases of teenagers (32 eyes), of congenital glaucoma undertook modified combined trabeculotomy-trabeculectomy were analyzed retrospectively. The parameters evaluated included the post operation visual acuity, the anterior chamber, the filtering bleb, the intraocular pressure, the C/D ratio, visual field, the retinal nerve fiber layer changes and the complications.
RESULTS: The follow-up period was 1 to 29mo, averaging 13.3±7.7mo. Upon the last visit after the operation, functional filtering blebs developed in all the involved eyes. The intraocular pressure was controlled under 21 mm Hg, which was decreased by 60% when compared with that before the operation, without using any medication. There were no significant changes in the post operation visual acuity and the retinal nerve fiber layer thickness before and after the operation in teenager group (P>0.05), and both the post operation C/D ratio and the visual field mean defect (MD) were reduced compared with those before the operation (P<0.05). There were no severe complications in any of the patients.
CONCLUSIONS: The modified combined trabeculotomy-trabeculectomy can effectively reduce the intraocular pressure and control the development of glaucoma in cases of congenital glaucoma. It is a safe and effective operative method for the treatment of congenital glaucoma.