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Pediatric Investigation Dec 2021In cases of epiblepharon with lower eyelid retraction secondary to glaucoma, correcting epiblepharon alone is ineffective. Combined surgery should be performed to obtain...
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.
PubMed: 34938971
DOI: 10.1002/ped4.12281 -
Cureus Dec 2023Retinoblastoma (RB) is a malignant tumour that develops from the immature cells of the retina. It is the most frequent type of paediatric intraocular cancer and is...
BACKGROUND
Retinoblastoma (RB) is a malignant tumour that develops from the immature cells of the retina. It is the most frequent type of paediatric intraocular cancer and is curable. Clinical and histological findings after enucleation of the affected eye dictate not only the patient's secondary care but also their prognosis. We assessed the clinical and histopathologic predictors of survival among children with RB from two tertiary health facilities in Uganda.
METHODS
This retrospective research utilized archived formalin fixed and paraffin-embedded blocks of eye specimens enucleated between 2014 and 2016 at Mbarara University of Science and Technology (MUST) Pathology Department and Ruharo Eye Centre (REC) in Mbarara, Uganda. The specimens were then processed and stained with haematoxylin and eosin. The confirmation of RB was made to include the histologic stage and features of the tumor. Biographic data of the patients and clinical features, such as leukocoria, proptosis, phthisis, staphyloma and buphthalmos, were retrieved from the records.
RESULTS
Males (55.1%, n=43) dominated the study population (N=78). The median age was 31 months. The most common clinical sign was leukocoria (69.2%, n=52), and the most predominant histopathological stage was stage 1 (41%, n=32). Optic nerve (ON) invasion was seen in 38.5% (n=30), choroidal invasion in 29.5% (n=23), scleral invasion in 7.7% (n=6) and orbital extension in 16.7% (n=13) of the cases. Flexner-Wintersteiner rosettes were seen in 34.6% (n=27). Necrosis was a prominent feature (71.8%, n=56). The two-year survival was estimated to be 61.5% (n=48). Leukocoria (risk ratio (RR) 1.1), female gender (RR 1.4), intralaminar ON invasion (RR 7.6) and a lack of orbital extension (RR 7) were significant predictors of survival.
CONCLUSION
Leukocoria and proptosis are noticeable clinical signs of RB. Most patients present while in stage one although stage four presentation is also common. Leukocoria, ON invasion, orbital extension and gender are significant factors predictive of survival in patients with RB.
PubMed: 38226099
DOI: 10.7759/cureus.50605 -
Eye (London, England) Sep 2019To assess the outcomes of intra-lenticular lens aspiration (ILLA) in paediatric cases with anterior dislocation of lens.
PURPOSE
To assess the outcomes of intra-lenticular lens aspiration (ILLA) in paediatric cases with anterior dislocation of lens.
METHODS
A retrospective review of medical records of cases with anterior dislocation of the lens in children (age < 16 years) that underwent ILLA between June 2017 and May 2018 was performed. Corrected distance visual acuity (CDVA), intraocular pressure (IOP), and anterior segment findings were noted at presentation and follow-up. Surgical notes were reviewed for all cases. Post-operative central corneal thickness (CCT) and central macular thickness (CMT) were recorded.
RESULTS
Eleven eyes of eight patients with a median age of ten years underwent ILLA. There were four males and four females. The median duration of symptoms was 2 months, CDVA was 1.77 logMAR, and IOP was 16 mm of Hg. Ten eyes had corneo-lenticular touch with corneal oedema, and two had raised IOP at presentation. Homocystinuria (n = 2/8), Microspherophakia (n = 2/8), Marfan syndrome (n = 1/8), Buphthalmos (n = 1/8) and Ectopia lentis et pupillae (n = 1/8) were the identifiable causes for anterior dislocation. There were no intra-operative complications in any case. Immediate post-operative corneal oedema and raised IOP was observed in nine and three cases respectively and was treated with medical therapy. The median post-operative CDVA and IOP at 6-months was 1 logMAR and 15 mm of Hg respectively. The median CCT and CMT were 516 and 248 μm respectively. Five eyes developed a central corneal descemet scar.
CONCLUSIONS
ILLA is a safe and effective technique for surgical removal of an anteriorly dislocated lens in paediatric cases.
Topics: Adolescent; Anterior Eye Segment; Capsulorhexis; Child; Child, Preschool; Chondroitin Sulfates; Drug Combinations; Eyeglasses; Female; Humans; Hyaluronic Acid; Infant; Intraocular Pressure; Lens Subluxation; Male; Retrospective Studies; Suction; Tonometry, Ocular; Visual Acuity
PubMed: 30944461
DOI: 10.1038/s41433-019-0426-y -
Journal of Glaucoma Jan 2019To evaluate the effectiveness of microcatheter-assisted trabeculotomy (MAT) to treat primary congenital glaucoma after failed previous glaucoma surgeries.
PURPOSE
To evaluate the effectiveness of microcatheter-assisted trabeculotomy (MAT) to treat primary congenital glaucoma after failed previous glaucoma surgeries.
MATERIALS AND METHODS
Retrospective, noncomparative, interventional case series conducted at Beijing Tongren Eye Center, China. Outcome measures were compared between 3 groups: successful and complete (≥330 degrees) MAT; successful and partial (<330 degrees) MAT; or cases converted to traditional trabeculotomy when the Schlemm's canal could not be catheterized >180 degrees. Success was defined as final intraocular pressure ≤21 mm Hg, with (qualified success) or without (complete success) glaucoma medications.
RESULTS
In total, 74 eyes of 63 consecutive patients were included. MAT was performed in 50 eyes (67.6%). Postoperative intraocular pressure and number of glaucoma drops (17.7±8.6 mm Hg, 0.6±1.2 medications) was significantly less than the preoperative values (35.3±7.2 mm Hg, 2.7±0.8 medications; P<0.001). Cumulative probabilities of qualified and complete success were 84.0% and 80.0% at 3-year follow-up with no difference between complete and partial trabeculotomies. MAT was not successfully performed in 24 eyes (32.4%), requiring conversion to traditional trabeculotomy and associated with greater incidence of previous surgeries (P<0.001), earlier age of disease onset (P=0.024) and worse corneal transparency (P=0.010). Cumulative probabilities of qualified and complete success were 37.0% and 29.2% at 3-year follow-up.
CONCLUSIONS
Both complete and partial MAT achieved significant pressure reduction in cases of primary congenital glaucoma with previous failed glaucoma surgeries in intermediate term.
Topics: Adolescent; Antihypertensive Agents; Catheterization; Catheters; Child; Child, Preschool; Female; Follow-Up Studies; Humans; Hydrophthalmos; Infant; Intraocular Pressure; Male; Retrospective Studies; Tonometry, Ocular; Trabeculectomy; Treatment Failure; Treatment Outcome; Young Adult
PubMed: 30358646
DOI: 10.1097/IJG.0000000000001116 -
Indian Journal of Ophthalmology Jul 2022Neurofibromtosis-1 (NF-1) is the commonest oculo-neuro-cutaneous syndrome with multiple ocular manifestations. Reporting three children who presented with unilateral...
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.
Topics: Child; Choroid; Ganglioneuroma; Humans; Neurofibromatosis 1; Retinal Neoplasms; Retinoblastoma
PubMed: 35791167
DOI: 10.4103/ijo.IJO_3109_21 -
Indian Journal of Ophthalmology Jul 2022
Topics: Cataract; Humans; Hydrophthalmos; Infant
PubMed: 35791190
DOI: 10.4103/ijo.IJO_2498_21 -
BMJ Case Reports Aug 2021
Topics: Aniridia; Ectopia Lentis; Glaucoma; Humans; Hydrophthalmos; Iris
PubMed: 34404663
DOI: 10.1136/bcr-2021-244000 -
The Canadian Veterinary Journal = La... Apr 2022A 7-week-old, intact, female domestic shorthaired cat was presented to the Atlantic Veterinary College (AVC) Ophthalmology service for a 1-week history of buphthalmia in...
A 7-week-old, intact, female domestic shorthaired cat was presented to the Atlantic Veterinary College (AVC) Ophthalmology service for a 1-week history of buphthalmia in the left eye and bilateral elevated intraocular pressures. Ocular examination revealed bilateral non-visual glaucomatous eyes. Bilateral enucleations were performed without complications and histopathology revealed anterior segment dysgenesis of varying degrees in both eyes. Key clinical message: Anterior segment dysgenesis is a developmental condition that can result in primary congenital glaucoma for which the best course of treatment is enucleation.
Topics: Animals; Anterior Eye Segment; Eye Abnormalities; Female; Glaucoma; Humans; Hydrophthalmos
PubMed: 35368399
DOI: No ID Found -
Eye (London, England) Aug 2020To study the high-risk histopathology features of retinoblastoma based on age at primary enucleation.
PURPOSE
To study the high-risk histopathology features of retinoblastoma based on age at primary enucleation.
METHODS
Retrospective study of 616 patients.
RESULTS
The mean age at presentation and primary enucleation for retinoblastoma was 34 months (median, 28 months; range, <1-455 months). Of these cases, 128 (21%) were aged ≤1 year, 149 (24%) were in the age group of 1-2 years, 117 (19%) in 2-3 years, 104 (17%) in 3-4 years, and 118 (19%) were >4 years of age at the time of enucleation. Bilateral retinoblastoma (34%; p < 0.0001) and buphthalmos (20%; p < 0.0001) were more common in children ≤1 year of age. Anterior chamber pseudohypopyon (15%; p < 0.0001) and vitreous seeds (53%; p < 0.0001) were more common in children aged >4 years. Based on 8th edition American Joint Committee on Cancer staging system, pT3 was less common in children ≤1 year of age (13%; p < 0.001). Based on histopathology, 38% patients had high-risk features including 24% children aged ≤1 year, 42% in the age group of 1-2 years, 34% in 2-3 years age group, 45% in 3-4 years age group, and 48% patients were >4 years of age. Post-laminar optic nerve infiltration (6%; p = 0.02) and massive choroidal infiltration (9%; p = 0.04) was least common in children ≤1 year of age. Over a mean follow-up period of 52 months (median, 36 months; range, <1-218 months), systemic metastasis and death occurred in 9% patients despite adjuvant systemic chemotherapy.
CONCLUSION
The predominant high-risk histopathology feature of retinoblastoma varies with age at primary enucleation.
Topics: Child; Child, Preschool; Eye Enucleation; Humans; Infant; Optic Nerve; Retinal Neoplasms; Retinoblastoma; Retrospective Studies
PubMed: 31767966
DOI: 10.1038/s41433-019-0698-2 -
Molecular Vision 2016The gene encodes an enzyme that is a member of the cytochrome P450 superfamily. Mutations in have been mainly reported in recessive pediatric ocular phenotypes, such...
PURPOSE
The gene encodes an enzyme that is a member of the cytochrome P450 superfamily. Mutations in have been mainly reported in recessive pediatric ocular phenotypes, such as primary congenital glaucoma (PCG) and congenital glaucoma with anterior segment dysgenesis (CG with ASD), with some likely pathogenic variants also identified in families affected with adult-onset primary open angle glaucoma (POAG).
METHODS
We examined in 158 pediatric patients affected with PCG (eight), CG with ASD (22), CG with other developmental ocular disorders (11), juvenile glaucoma with or without additional ocular anomalies (26), and ASD or other developmental ocular conditions without glaucoma (91); in addition, a large cohort of adult patients with POAG (193) and POAG-negative controls (288) was examined.
RESULTS
Recessive pathogenic variants in were identified in two PCG pedigrees, three cases with CG and ASD, and two families with CG and other ocular defects, such as sclerocornea in one patient and microphthalmia in another individual; neither sclerocornea nor microphthalmia has been previously associated with . Most of the identified causative mutations are new occurrences of previously reported pathogenic alleles with two novel variants identified: a c.1325delC, p.(Pro442Glnfs*15) frameshift allele in a family with PCG and a c.157G>A, p.(Gly53Ser) variant identified in a proband with CG, Peters anomaly, and microphthalmia. Analysis of the family history in the -positive families revealed POAG in confirmed or presumed heterozygous relatives in one family with PCG and two families with ASD/CG; POAG was associated with the c.1064_1076del, p.(Arg355Hisfs*69) allele in two of these pedigrees. Screening of an unrelated POAG cohort identified the same c.1064_1076del heterozygous allele in one individual with sporadic POAG but not in age- and ethnicity-matched POAG-negative individuals. Overall, there was no significant enrichment for mutant alleles in within the POAG cases compared to the controls.
CONCLUSIONS
In summary, these data expand the mutational and phenotypic spectra of to include two novel alleles and additional developmental ocular phenotypes. The contribution of to POAG is less clear, but loss-of-function variants in , especially c.1064_1076del, p.(Arg355Hisfs*69), may be associated with an increased risk for POAG.
Topics: Adult; Aged; Aged, 80 and over; Alleles; Anterior Eye Segment; Child; Child, Preschool; Cytochrome P-450 CYP1B1; DNA Mutational Analysis; Female; Glaucoma, Open-Angle; Humans; Hydrophthalmos; Male; Middle Aged; Mutation; Pedigree; Phenotype; Polymerase Chain Reaction
PubMed: 27777502
DOI: No ID Found