Optic disc pits are hypothesized to form because of failure of embryonic fissure closure, which can also present with congenital defects in the choroid, RPE, and neurosensory retina. It is also associated with serous macular detachment. We present a case report of a 32-year-old man with an optic disc pit and independent choroidal coloboma below the inferior peripapillary area in the left eye, associated with macular retinoschisis with serous detachment.

BACKGROUND: COACH syndrome is a rare autosomal recessive genetic disease characterized by liver fibrosis, which leads to severe complications related to portal hypertension. However, only a few patients with COACH syndrome undergoing liver transplantation (LT) have been reported.
METHODS: We herein report the outcomes of four children who underwent LT for COACH syndrome at our institute and review three previously reported cases to elucidate the role of LT in COACH syndrome.
RESULTS: All four patients in our institute were female, and three received living donors LT. All patients were diagnosed with COACH syndrome by genetic testing. LT was performed in these patients at 3, 7, 9, and 14 years old. The indication for LT was varices related to portal hypertension in all patients. One showed an intrapulmonary shunt. Blood tests revealed renal impairment due to nephronophthisis in three patients, and one developed renal insufficiency after LT. The liver function was maintained in all patients. A literature review revealed detailed information for three more patients. The indication for LT in these three cases was portal hypertension, such as bleeding from esophageal varices. One patient had chronic renal failure on hemodialysis at LT and underwent combined liver and kidney transplantation. Of these three previous patients, one died from hepatic failure due to de novo HCV infection 3 years after LT.
CONCLUSIONS: LT should be considered an effective treatment for COACH syndrome in patients with severe portal hypertension. However, a detailed follow-up of the renal function is necessary.

Our case report and review contribute to the understanding of ocular manifestations in NPHP1 ciliopathies by reinforcing the relationship between pathogenic genetic variants and a wide array of ophthalmic abnormalities.

To determine incidence, trends in presentation, associated ocular lesions and other diseases, treatment modalities, and case outcomes of eyelid coloboma cases in snow leopards.
49 snow leopards with eyelid coloboma living under managed care in North America.
Medical records were retrospectively searched to identify snow leopards in which eyelid coloboma was diagnosed between January 1, 2000, and December 31, 2020. Data recorded from each animal included signalment, ophthalmic examination information, clinical signs, concurrent health conditions, medical and/or surgical interventions, time to resolution of signs, recurrence of clinical signs, and direct relatives with a history of eyelid coloboma.
Ocular clinical signs were present at diagnosis in most cases but not seen in all cases. Corrective procedures were undertaken in 39 cases. Clinical signs were resolved by the total combination of interventions in 84.6% of individuals; however, signs resolved in only 33.3% of cases after a single surgical reconstruction or cryoablation procedure per eye.
Eyelid coloboma is widespread in the North American snow leopard population. A high percentage (73.5%) have an affected sibling, parent, or grandparent, suggesting a heritable component. Surgical correction resolves or improves clinical signs in most cases, but there is a high rate of postprocedural complications with all procedure types employed. Most complications are minor and manageable, but these can also impact case outcomes. Animals require long-term monitoring, as clinical signs may recur (in some cases, years after initial signs are reported to be resolved), and some animals may require long-term care to manage signs.

UNASSIGNED: PACS1-related neurodevelopmental disorder (PACS1-related NDD) is caused by pathogenic variants in the PACS1 gene and is characterized by a distinctive facial appearance, intellectual disability, speech delay, seizures, feeding difficulties, cryptorchidism, hernias, and structural anomalies of the brain, heart, eye, and kidney. There is a marked facial resemblance and a common multisystem affectation with patients carrying pathogenic variants in the WDR37 and PACS2 genes, although they vary in terms of severity and eye involvement.
UNASSIGNED: Here, we describe 4 individuals with PACS1-related NDD from Mexico, all of them carrying a de novo PACS1 variant c.607C>T; p.(Arg203Trp) identified by exome sequencing. In addition to eye colobomata, this report identified corneal leukoma, cataracts, and tortuosity of retinal vessels as ophthalmic manifestations not previously reported in patients with PACS1-related NDD.
UNASSIGNED: We reviewed the ocular phenotypes reported in 74 individuals with PACS1-related NDD and the overlaps with WDR37- and PACS2-related syndromes. We found that the 3 syndromes have in common the presence of colobomata, ptosis, nystagmus, strabismus, and refractive errors, whereas microphthalmia, microcornea, and Peters anomaly are found only among individuals with PACS1-related NDD and WDR37 syndrome, being more severe in the latter. This supports the previous statement that the so-called WDR37-PACS1-PACS2 axis might have an important role in ocular development and also that the specific ocular findings could be useful in the clinical differentiation between these related syndromes.

Large congenital lid colobomas are traditionally repaired using 1- or 2-step vascularized flap-graft combinations. However, visual axis occlusion for weeks is a severe problem in small children and recent reports suggest that the flap pedicle does not contribute to blood perfusion. A \"one-step\" substitute for large lid defects has recently been reported in animals and humans, demonstrating the viability of a bilamellar autograft alone. We present an alternative \"one-step\" reconstructive approach in a 6-month-old infant who had a centrally-located large upper eyelid defect resulting from a congenital coloboma. The free full-thickness bilamellar autograft was harvested from the contralateral upper eyelid. The follow-up time was 48 months. Cosmetic and functional results were good, the bilamellar graft survived, and there was no graft ischemia, necrosis, or rejection. The boy developed madarosis, lid notching, and mild contour irregularity but needed no reoperation since the parent was satisfied with the surgical result. A free bilamellar eyelid autograft seems to be an outstanding alternative to both \"conventional 2-step\" and \"modern 1-step\" options for the reconstruction of large colobomatous eyelid openings, especially in young infants who cannot tolerate visual axis blockage. It is an easy, practical, fast, and effective technique that also saves cost in health care.

The clinical features of cerebellar vermis hypoplasia, oligophrenia, ataxia, coloboma, and hepatic fibrosis (COACH) characterize the rare autosomal recessive multisystem disorder called COACH syndrome. COACH syndrome belongs to the spectrum of Joubert syndrome and related disorders (JSRDs) and liver involvement distinguishes COACH syndrome from the rest of the JSRD spectrum. Developmental delay and oculomotor apraxia occur early but with time, these can improve and may not be readily apparent or no longer need active medical management. Congenital hepatic fibrosis and renal disease, on the other hand, may develop late, and the temporal incongruity in organ system involvement may delay the recognition of COACH syndrome. We present a case of a young adult presenting late to a Renal Genetics Clinic for evaluation of renal cystic disease with congenital hepatic fibrosis, clinically suspected to have autosomal recessive polycystic kidney disease. Following genetic testing, a reevaluation of his medical records from infancy, together with reverse phenotyping and genetic phasing, led to a diagnosis of COACH syndrome.

OBJECTIVE: We report use of cyanoacrylate (N-butyl-Cyanoacrylate) in previously failed retinal reattachment surgeries for chorio-retinal colobomas. We report the surgical technique, its challenges, and long-term outcomes in three patients who underwent the surgery.
METHODS: A chart review of patients with chorio-retinal colobomas and retinal detachment repair with cyanoacrylate at a tertiary eye care center in Nepal. Cyanoacrylate was used to seal colobomatous retinal breaks in eyes which had undergone multiple retinal surgeries with failed outcome.
RESULTS: Three eyes that were operated using cyanoacrylate were included. All three patients had attached retina and none of the patients required a long-term tamponading agent. None of the patients underwent head positioning following the surgery. All of the patients had a visual acuity gain of 3/60 or more at the end of 8 months. No adverse or inflammatory reactions were noted.
CONCLUSIONS: We demonstrate that cyanoacrylate is safe and less resource-demanding without a requirement of second surgery to remove a tamponading agent. It could be helpful in eyes with persistent retinal detachment in colobomatous eyes. Because we were able to achieve favorable outcomes without head positioning, we believe it may also be helpful in patients who are not suitable for positioning because of bodily or bony deformities and in retinal detachment with other coexisting trauma.

BACKGROUND: Rearrangements of unstable DNA sequences may alter the structural integrity or the copy number of dose-sensitive genes, resulting in copy number variations. They may lead more frequently to deletions, in addition to duplications and/or inversions, which are the underlying pathogenic mechanism of a group of conditions known as genomic disorders (or also contiguous gene syndromes). Interstitial deletions of the short arm of chromosome 1 are rare, and only about 30 patients have been reported. Their clinical features are variable, in respect of the extent of the deleted region. They include global developmental delay, central nervous system (CNS) malformations, craniosynostosis, dysmorphic face, ocular defects, cleft palate, urinary tract anomalies and hand/foot abnormalities.
METHODS: Hereby, we report on an Italian female newborn with craniosynostosis, facial dysmorphisms including bilateral microphthalmia and coloboma, cleft palate, and a severe global developmental and growth delay, associated to a 1p31.3p22.2 deletion of 20.7 Mb. This was inherited from the healthy mother, who was carrier of a smaller (2.6 Mb) deletion included within the centromeric region (1p22.3p22.2) of the same rearrangement, in addition to a translocation between chromosomes 1p and 4q. The deleted region of the proband contains about ninety genes. We focus on the genotype-phenotype correlations.
CONCLUSIONS: The results of the present study further confirm that microdeletions at 1p31.3 constitute a contiguous gene syndrome. It is hard to establish whether the critical rearrangement of such syndrome may involve the centromeric band p22.3p22.2, or more likely do not, also in light of the genomic profile of the healthy mother of our patient. Neonatologists and pediatricians should take into consideration 1p31 microdeletion in cases of developmental and growth delay associated to craniosynostosis, peculiar facial dysmorphisms, cleft palate and hand/foot abnormalities. The present report provides new data about 1p31 microdeletion syndrome, in view of a better characterization of its genomic and phenotypic profile.

Uveal coloboma is a condition defined by missing ocular tissues and is a significant cause of childhood blindness. It occurs from a failure of the optic fissure to close during embryonic development and may lead to missing parts of the iris, ciliary body, retina, choroid, and optic nerve. Because there is no treatment for coloboma, efforts have focused on prevention. While several genetic causes of coloboma have been identified, little definitive research exists regarding the environmental causes of this condition. We review the current literature on environmental factors associated with coloboma in an effort to guide future research and preventative counseling related to this condition.