Optic Nerve Aplasia.

OBJECTIVE: Optic nerve aplasia (ONA) is a rare ocular anomaly. We report ophthalmologic, systemic, and genetic findings in ONA. METHODS: Patients were identified through an International Pediatric Ophthalmology listserv and from the practice of the senior author. Participating Listserv physicians completed a data collection sheet. Children of all ages were included. Neuroimaging findings were also recorded. RESULTS: Nine cases of ONA are reported. Patients' ages ranged from 10 days to 2 years (median 9 months). Seven cases were bilateral. All patients had absence of the optic nerve and retinal vessels in the affected eye or eyes. Ophthalmologic findings included glaucoma, microcornea, persistent pupillary membrane, iris coloboma, aniridia, retinal dysplasia, retinal atrophy, chorioretinal coloboma, and persistent fetal vasculature. Systemic findings included facial dysmorphism, cardiac, genitourinary, skeletal, and developmental defects. A BCOR mutation was found in one patient. One patient had rudimentary optic nerves and chiasm on imaging. CONCLUSION: ONA is a unilateral or bilateral condition that may be associated with anomalies of the anterior or posterior segment with or without systemic findings. Rudimentary optic nerve on neuroimaging in one case suggests that ONA is on the continuum of optic nerve hypoplasia.

A review on clotting disorders and retinal hemorrhages: Can they mimic abuse?

BACKGROUND: The characteristic findings of abusive head trauma (AHT) include retinal hemorrhages (RH). RH have many etiologies in childhood, which should be considered in the differential diagnosis of possible child abuse. The relationship between RH and thrombophilia in children is not well established. OBJECTIVE: In this literature review, we sought to assess whether retinal findings in pediatric patients with thrombophilia could mimic those of AHT. METHODS: A literature search was performed to identify all cases of thrombophilia in children less than 18 years old with ocular manifestations. Disorders of thrombophilia including protein C and S deficiency, factor V Leiden (FVL), prothrombin variant, MTHFR mutation, hyperhomocysteinemia, elevated factor VIII, and elevated lipoprotein (a) were considered. All cases of pediatric thrombophilia with retinal examination or intraocular bleeding were included. If provided, descriptions of the RH were reviewed. RESULTS: Our initial search yielded 514 results. Forty-three articles met our inclusion criteria. We identified 3 children with RH within the AHT usual age range (<5 years old), ages 5 weeks and 7 weeks old, in the setting of thrombophilia. One child had ocular findings that could potentially mimic abuse. No other indicators of abuse were present in this case. CONCLUSIONS: Based on previous reports, thrombophilia alone has not been shown to clearly mimic abusive head trauma. In reported cases of thrombophilia with RH, the clinical picture and ophthalmic findings are usually distinct from abuse.

CNGB1-related rod-cone dystrophy: A mutation review and update.

Cyclic nucleotide-gated channel ß1 (CNGB1) encodes the 240-kDa ß subunit of the rod photoreceptor cyclic nucleotide-gated ion channel. Disease-causing sequence variants in CNGB1 lead to autosomal recessive rod-cone dystrophy/retinitis pigmentosa (RP). We herein present a comprehensive review and analysis of all previously reported CNGB1 sequence variants, and add 22 novel variants, thereby enlarging the spectrum to 84 variants in total, including 24 missense variants (two of which may also affect splicing), 21 nonsense, 19 splicing defects (7 at noncanonical positions), 10 small deletions, 1 small insertion, 1 small insertion-deletion, 7 small duplications, and 1 gross deletion. According to the American College of Medical Genetics and Genomics classification criteria, 59 variants were considered pathogenic or likely pathogenic and 25 were variants of uncertain significance. In addition, we provide further phenotypic data from 34 CNGB1-related RP cases, which, overall, are in line with previous findings suggesting that this form of RP has long-term retention of useful central vision despite the early onset of night blindness, which is valuable for patient counseling, but also has implications for it being considered a priority target for gene therapy trials.

Falsely high rebound tonometry.

BACKGROUND: Rebound tonometry (RBT) can be used to measure intraocular pressure (IOP) in children unable to tolerate measurement with applanation tonometry (AT) while awake. RBT readings are often 2-3 mm Hg higher than AT. We have experienced children with a repeatedly higher difference between RBT and AT measurements (≥6 mm Hg). The purpose of this study was to identify demographic and ocular characteristics that contribute to this artifactuous discrepancy. METHODS: The medical records of pediatric patients with IOP measured by RBT followed by AT within 6 months without intervening surgery or change in medical management were retrospectively reviewed to identify potential predictors of greater difference between RBT and AT readings. RESULTS: A total of 123 eyes of 65 patients were included. In patients with normal IOP (≤24 mm Hg), 18.5% had a ≥6 mm Hg difference between RBT and AT, with RBT being higher. Risk factors for this included presence of persistent fetal vasculature (PFV), increased corneal diameter, and higher initial RBT value (>20). In patients with elevated IOP (>24 mm Hg), 77% had ≥6 mm Hg difference, with larger corneal diameter being the sole predictor. Eyes were less likely to have significant RBT-AT difference if there was corneal opacity or iris abnormalities in eyes with elevated IOP (>24 mm Hg). CONCLUSIONS: In some children, RBT readings are ≥ 6 mm Hg higher than AT readings. Caution should be taken when interpreting RBT values in patients with PFV, increased corneal diameter, and higher initial RBT values.

Anterior Segment Optical Coherence Tomography in Locating the Insertion of Horizontal Extraocular Muscles After Strabismus Surgery.

PURPOSE: To evaluate the accuracy of anterior segment optical coherence tomography (AS-OCT) for locating horizontal extraocular muscle (EOM) insertion after strabismus surgery. METHODS: The distance from the limbus to the postoperative muscle insertion was measured with calipers intraoperatively and by AS-OCT during the postoperative visit of adults undergoing strabismus surgery. Images were collected by masked technicians. Intraclass correlation coefficients (ICC) were used to evaluate the agreement between measurements. RESULTS: Twenty-eight patients were recruited. Measurements were taken from 31 eyes, including 17 lateral and 14 medial rectus muscles. EOM insertion was successfully identified by AS-OCT for 14 (45%) cases. The ICC between intra-operative and AS-OCT measurement was 0.886 when the distance from the limbus to the insertion of EOM was less than 8 mm and 0.001 when the distance from the limbus was between 8 and 10 mm. EOM insertion was undetectable if distance to the limbus was greater than 10 mm. CONCLUSIONS: AS-OCT can accurately identify post-surgical horizontal muscle insertion if the insertion is less than 8 mm from the limbus. [J Pediatr Ophthalmol Strabismus. 2021;58(1):62-65.].

Retinal hemorrhage and bleeding disorders in children: A review.

BACKGROUND: Retinal hemorrhages (RH) are a common manifestation of abusive head trauma (AHT) resulting from acceleration-deceleration injury with or without blunt impact. Evaluation of a child with RH requires careful consideration of these differential diagnoses. The extent to which coagulopathy alone can cause RH would be useful to understand as coagulopathy may accompany AHT. OBJECTIVE: In this systematic review, we sought to identify whether coagulopathies have been reported with RH similar to those of AHT. METHODS: We performed a literature search for ocular manifestations of bleeding disorders in children less than 18 years old. We included clotting factor deficiencies, vitamin K deficiency, platelet function abnormalities, thrombocytopenia, disseminated intravascular coagulation (DIC), and trauma induced coagulopathy (TIC). We included only pediatric reports of intraocular bleeding or documented eye examinations that indicated no hemorrhages. We then re-examined cases for ocular and systemic findings that could potentially mimic abuse. RESULTS: Our initial search yielded 816 results. Sixty-one articles met our inclusion criteria. Of these, there were 32 children within the AHT age range (less than 5 years old) who had RH and concomitant coagulopathy. Only 5 cases might potentially be confused for abuse. Of these, no classic characteristics of RH from abuse such as retinoschisis or retinal folds were found. Systemic features were inconsistent with AHT. CONCLUSIONS: The presence of coagulopathy alone does not rule out the possibility that the child has been abused. Coagulopathy alone has not been reported as an etiology of RH that are consistent with AHT, especially when other findings are present.

Treatment of Port Wine Birthmarks in Sturge-Weber Syndrome Using Topical Timolol.

Three patients with facial port wine birthmarks were randomly assigned to receive treatment with topical timolol or the placebo. Three masked observers evaluated photographs of the patients, noting improvement in patients who were treated with timolol and two controls. The photographic technique was not standardized. This pilot study suggests topical timolol warrants further evaluation for port wine birthmarks. [J Pediatr Ophthalmol Strabimus. 2021;58:e1-e4.].

Ocular manifestations of Emanuel syndrome.

Emanuel syndrome is caused by a supernumerary der(22)t(11;22) and typically manifests with intellectual disability and craniofacial dysmorphism. Ocular abnormalities have infrequently been described. We report a 36-year-old man with severe intellectual disability, aphasia, and facial dysmorphism, with high myopia and juvenile open angle glaucoma (JOAG). Microarray analysis results included 47,XY,+der(22)t(11;22)(q23;q11.2), and a 269 kb deletion of 7q31.33(125,898,014-126,166,829). Two candidate genes were identified as possible etiologies for the ocular pathologies in our patient: a MFRP duplication on chromosome 11, which may play a role in high myopia and dysregulation of emmetropization, and a GRM8 deletion on chromosome 7, which may cause glutamate-induced excitotoxicity and therefore have a role in the development of JOAG, unrelated to the Emanuel syndrome genotype. We provide the first detailed description these ocular abnormalities in a patient with Emmanuel syndrome.