Genomic Analysis Reveals Candidate Genes Underlying Sex-Linked Eyelid Coloboma, Feather Color Traits, and Climatic Adaptation in Huoyan Geese.

Driven by natural and artificial selection, the domestic Huoyan geese from Northern China have gradually generated specific phenotypes and climatic adaptations. To understand the genetic basis of the two specific phenotypes that are sex linked, including upper eyelid coloboma and gosling feather color, as well as the climatic adaptations of the Huoyan goose, which can contribute to the artificial selection and breeding of geese. We selected Huoyan geese and nine Southern Chinese goose breeds and identified their divergence on the genomic level. Using selective sweep analysis, we found that PTPRM on chromosome Z influences the upper eyelid coloboma phenotype of the Huoyan goose, and TYRP1 is a plausible candidate gene for the Huoyan gosling feather color. We obtained a number of genes related to cold adaptation in Huoyan geese, mainly involved in physiological functions such as metabolism, angiogenesis contraction and circulatory system, apoptosis, immunity, stress, and neural system. The most interesting candidates for cold adaptation are PIP5K1B and NMNAT3 that are associated with energy metabolism and stress. We also obtained some genes related to heat adaptation, including AGTPBP1, associated with neurology; GDA, associated with skin pigmentation; and NAA35, associated with apoptosis. These findings deepen our understanding of the genetics of specific phenotypes and climate adaptation in local geese and provide insights for the selection of goose breeds.

Tessier Number 9 Craniofacial Cleft Associated with Goldenhar Syndrome and Its Surgical Management: A Report of a Rare Case.

Purpose: To report surgical repair of a rare case of Tessier number 9 craniofacial cleft. Methods: Case report. Results: Tessier number 9 craniofacial cleft is the rarest cleft anomaly. This article reports a congenital eyelid coloboma in a 21-year-old woman that involved the lateral third of the left upper eyelid and extended to the lateral canthus, consistent with number 9 craniofacial cleft Tessier classification. The additional findings included a fibrotic band between the globe and the remnant of the upper lid, which caused a small-angle exotropia. There were also skin appendages in the preauricular area and the inner surface of the nasal columella consistent with Goldenhar syndrome. The eyelid coloboma was repaired by releasing the adhesions and using a composite graft of the hard palate to repair the posterior lamella. The anterior lamella was repaired by creating a skin advancement flap. The esthetic and functional outcomes were acceptable in the 2-year postoperative follow-up period. Conclusion: The composite hard palate graft can be used to repair posterior lamella defect in the case of Tessier number 9 craniofacial cleft.

Ocular adnexal phenotype and management of a patient with mosaic expression of a mutation in TWIST2.

Ablepharon-macrostomia syndrome (AMS) and Barber-Say syndrome (BSS) are congenital ectodermal dysplasias associated with mutations in the TWIST2 gene. Among the ophthalmic anomalies that occur in these syndromes, underdevelopment of the anterior lamella of the eyelid is a defining feature. Reports of mosaic expression of TWIST2 mutations are extremely rare, with only five confirmed or suspected cases described to date. Mosaic expression of TWIST2 variants is correlated with a less severe phenotype than that reported for the typical expression of TWIST2 variants associated with BSS or AMS. Abnormal development of the anterior lamella appears to be a common feature in all cases of AMS with mosaic expression. Here, we describe the phenotype of a patient with mosaic expression of a TWIST2 mutation that is typically associated with AMS. We additionally describe the surgical approach employed in the treatment of this patient.

Isolated eyelid coloboma in association with complex choristoma in a newborn: A case report.

Ocular choristomas are rare lesions that have been reported at the conjunctiva, sclera, orbit, or intraocularly with significant potential for visual disturbance. The complex type of choristomas shows a mixture of different cartilaginous, glandular, and muscular tissue in addition to fat. We present a patient with an associated eyelid coloboma and complex choristoma. A 12-day-old baby boy was referred to our hospital with an upper medial eyelid coloboma affecting almost two-thirds of the eyelid length with an additional sub-brow mass since birth. The baby also had secondary findings to the eyelid coloboma defect: temporal conjunctival symblepharon, vascularized cornea, and inferior pannus. The patient underwent an upper eyelid reconstruction with excisional biopsy of the sub-brow mass, which was diagnosed as a complex choristoma. This is the first case of an eyelid coloboma-associated with complex choristoma without any other systemic associations.

Ophthalmic features and management outcomes of 30 children having Goldenhar syndrome.

PURPOSE: To study the ophthalmic clinical profile and the management outcomes of children having Goldenhar syndrome (GS). METHODS: Retrospective review of included children fulfilling the diagnostic criteria of GS was performed. The demography, ophthalmic features, systemic anomalies, and treatment outcomes were recorded manually from patient files. An ENT, pediatrics, cardiology, and orthopedics consultation was sought for all GS patients before taking up for any ophthalmic surgical procedure. The anatomical (ocular surface and eyelid) and functional {vision and extraocular movements (EOM)} factors were exclusively studied. We ensured a minimum postoperative follow-up of 12 months, and our data were compared with the major studies featuring 'ophthalmic features' of GS. RESULTS: Totally 30 children (females = 18, 60%) were included with a median presenting age of 48 months. Twenty-seven (90%) had unilateral ophthalmic involvement with major features being upper eyelid coloboma (n = 25, 75.76%), lipodermoid (n = 18, 54.55%), and limbal dermoid (n = 10, 30.3%). Diminution of visual acuity was recorded in 22 (73.3%), while five (16.7%) had limitation of EOM. Systemically, the prominent features included hemifacial hypotrophy (100%), auricular anomalies (80%), cardiac anomalies (10%), and scoliosis (6.67%). The eyelid colobomas were repaired with the direct closure ± cantholysis technique or using a Tenzel's flap. All children had satisfactory anatomical and functional outcomes after ophthalmic surgical interventions without any significant complications. CONCLUSION: The tailored ophthalmic surgical intervention(s) provides satisfactory restoration of anatomy and functionality of the eye. These children need specific multi-discipline consultations for the holistic management and complete care.

Clinical and histological features and outcomes of upper eyelid colobomas in the Saudi population.

PURPOSE: To study the clinical features, histopathology, and management of congenital upper eyelid coloboma (CEC) in the Saudi population. METHODS: A retrospective review of health records evaluated the demographics, histopathology, and surgical outcomes of patients with CEC. RESULTS: Thirty-nine eyelids of 27 patients were included in this study. CEC was bilateral in 12 (44.4%) patients, isolated in 17 (62.9%), and as part of a syndrome in 10 (37.1%) patients. CEC was commonly located in the medial upper lid (22 lids, 56.4%) and mostly involved the full thickness of the lid (27 lids, 69.2%). Corneal adhesion (18 eyes, 46.1%) and poorly formed eyebrows (21 eyebrows, 53.8%) were the most common ocular/adnexa associations. Histopathology was similar in all cases and the main features were scarred dermis, atrophic orbicularis oculi, and atrophic or absent tarsus. Visual acuity at the final follow-up was 20/50 or better in 13 (33.3%) eyes. Complete lid closure without lagophthalmos after one or more surgical procedures was achieved in 11 (40.7%) cases. CONCLUSIONS: CEC features in Saudi patients are similar to those described in the literature. Dermal scarring and defective orbicularis muscles are common. Achieving cosmetic and functional success after management remains challenging.

Elsahy-Waters syndrome is caused by biallelic mutations in CDH11.

Elsahy-Waters syndrome (EWS), also known as branchial-skeletal-genital syndrome, is a distinct dysmorphology syndrome characterized by facial asymmetry, broad forehead, marked hypertelorism with proptosis, short and broad nose, midface hypoplasia, intellectual disability, and hypospadias. We have recently published a homozygous potential loss of function variant in CDH11 in a boy with a striking resemblance to EWS. More recently, another homozygous truncating variant in CDH11 was reported in two siblings with suspected EWS. Here, we describe in detail the clinical phenotype of the original CDH11-related patient with EWS as well as a previously unreported EWS-affected girl who was also found to have a novel homozygous truncating variant in CDH11, which confirms that EWS is caused by biallelic CDH11 loss of function mutations. Clinical features in the four CDH11 mutation-positive individuals confirm the established core phenotype of EWS. Additionally, we identify upper eyelid coloboma as a new, though infrequent clinical feature. The pathomechanism underlying EWS remains unclear, although the limited phenotypic data on the Cdh11-/- mouse suggest that this is a potentially helpful model to explore the craniofacial and brain development in EWS-affected individuals.

Anterior segment dysgenesis (Peters' anomaly) in two snow leopard (Panthera uncia) cubs.

Two sibling snow leopards, a male and a female, with bilateral anterior segment dysgenesis (ASD), are reported. Both snow leopards also had colobomas of both upper eyelids. All eyes exhibited a central corneal opacity associated with a defect in posterior corneal stroma, endothelium and Descemet's membrane. Iris strands were present attached to the termination of Descemet's membrane and to the periphery of the posterior corneal defect. The iris was hypoplastic, and cataract was present in all four eyes. The left eye of the female was microphthalmic, with no trabecular meshwork and with persistent remnant of the hyaloid artery. The male had hydrocephalus and thus some of the features of Peters' plus syndrome (Peters' anomaly in addition to systemic malformations). The histological findings in the eyes of these snow leopard siblings are identical with those described in humans with Peters' anomaly.