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.

Ocular colobomas are typically located in the inferonasal quadrant and attributable to defective fetal fissure closure. Colobomas can, however, affect any part of the eye, from the eyelid to the optic nerve. We present the case of a 7-year-old girl with two retinochoroidal colobomas in an atypical temporal location, with associated other ocular defects.

Pai syndrome is described as the association of a midline cleft lip, midline facial polyps, and lipoma of the central nervous system. However, only a few patients present the full triad, and most exhibit a wide spectrum of phenotypic variability. Its entire clinical spectrum is still poorly delineated and the etiology remains unknown. In this report, a newborn was presented with congenital nasal septal lipoma, lipoma of the corpus callosum, multiple ventricular septal defect, and additional minor facial dysmorphism. This entity, multiple ventricular septal defect, which has never been reported in PS. Cytogenetic analysis showed normal male 46, XY karyotype. Chromosomal microarray analysis (750 K array) was also unremarkable. This case draws attention with the presence of multiple ventricular septal defect in Pai syndrome and is important in terms of providing phenotypic diversity. To our knowledge, this is also the first genetically evaluated case of Pai syndrome from Turkey.

BACKGROUND The efficacy and safety of the implantable collamer lens (ICL) in correcting high astigmatism have been previously reported. They are commonly used as an alternative to laser refractive surgery due to advantages such as leaving the cornea untouched, inducing fewer higher-order aberrations, resulting in better optical and visual quality, and it is a reversible procedure. We aim to present the outcome of ICL in managing anisometropia without cataract in an eye with unilateral lenticular coloboma. CASE REPORT A 27-year-old man with a Marfanoid body habitus was seeking refractive surgery for the correction of high astigmatism in the right eye. On presentation, the best corrected visual acuity was 20/30 and 20/20 in the right eye and left eye, respectively. Slit lamp examination indicated inferior lens coloboma extending from the 5 o\'clock to the 7: 30 o\'clock position in the right eye, after dilation of pupil. Following a complete refractive work-up, a toric ICL implantation was the presumed suitable surgery. Three weeks postoperatively, central vaulting was low, his ICL subluxated inferiorly, and the previously implanted temporal footplates were resting over the lenticular defect inferiorly. A high-resolution ultrasound biomicroscopy confirmed the presence of a ciliary body (CB) cyst at 9 o\'clock position. Urgent explantation of the unstable ICL was performed. CONCLUSIONS This case report emphasizes the challenges and limitations associated with ICL implantation in patients with lenticular colobomas and coexisting CB cyst. Selecting smaller lenticular colobomas and avoiding direct interaction between the weak zonules area and the ICL haptics are important steps to ensure the stability of implanted lens.

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.

The nasopalpebral lipoma-coloboma syndrome was described for the first time in 1982. It is an autosomal dominant syndrome with complete penetrance and is characterized by features like congenital symmetric upper eyelid and nasopalpebral lipomas, bilateral symmetric upper and lower eyelid colobomas, broad forehead, widow\'s peak, abnormal eyebrow pattern, telecanthus, broad nasal bridge, maxillary hypoplasia, and ophthalmological abnormalities. We report a case of a milder variant of the nasopalpebral lipoma-coloboma syndrome that we have termed \"nasopalpebral lipoma sine coloboma syndrome.\" Such a milder variant is not reported hitherto in the literature. We also describe the surgical correction of the deformity in a case that presented in adulthood, with a satisfactory and pleasing aesthetic outcome.

PUF60-related developmental disorder (also referred to as Verheij syndrome), resulting from haploinsufficiency of PUF60, is associated with multiple congenital anomalies affecting a wide range of body systems. These anomalies include ophthalmic coloboma, and congenital anomalies of the heart, kidney, and musculoskeletal system. Behavioral and intellectual difficulties are also observed. While less common than other features associated with PUF60-related developmental disorder, for instance hearing impairment and short stature, identification of specific anomalies such as ophthalmic coloboma can aid with diagnostic identification given the limited spectrum of genes linked with this feature. We describe 10 patients with PUF60 gene variants, bringing the total number reported in the literature, to varying levels of details, to 56 patients. Patients were recruited both via locally based exome sequencing from international sites and from the DDD study in the United Kingdom. Eight of the variants reported were novel PUF60 variants. The addition of a further patient with a reported c449-457del variant to the existing literature highlights this as a recurrent variant. One variant was inherited from an affected parent. This is the first example in the literature of an inherited variant resulting in PUF60-related developmental disorder. Two patients (20%) were reported to have a renal anomaly consistent with 22% of cases in previously reported literature. Two patients received specialist endocrine treatment. More commonly observed were clinical features such as: cardiac anomalies (40%), ocular abnormalities (70%), intellectual disability (60%), and skeletal abnormalities (80%). Facial features did not demonstrate a recognizable gestalt. Of note, but remaining of unclear causality, we describe a single pediatric patient with pineoblastoma. We recommend that stature and pubertal progress should be monitored in PUF60-related developmental disorder with a low threshold for endocrine investigations as hormone therapy may be indicated. Our study reports an inherited case with PUF60-related developmental disorder which has important genetic counseling implications for families.

Ocular coloboma is a rare congenital disability. If involving the macula, it affects the patient\'s vision and subsequently affects childhood development and quality of life in the future. Appropriate low vision aid and timely rehabilitation can provide the best possible quality of life for visually impaired children. We report a 9-year-old boy who presented with a diminution of vision in both eyes, and who was just enrolled in pre-school. He was diagnosed with bilateral iridochorioretinal coloboma associated with nystagmus and unilateral cataract. After all the necessary evaluation, a telescope was prescribed for distance and a dome magnifier for near. Furthermore, a peaked cap and photo grey lens were given for outdoor activities. This case highlights the importance of low vision intervention in a visually impaired child. Appropriate low vision aid and rehabilitation can improve patients\' lifestyle and academic performance who are diagnosed with iridochorioretinal coloboma.
UNASSIGNED: case reports; coloboma; ocular; rehabilitation; training.

Variations in the protocadherin gene FAT1 have recently been associated with a syndrome that includes coloboma, facial dysmorphism, renal failure, syndactyly, and other developmental defects.
Detailed medical and family history, physical examination, and molecular analysis.
This non-dysmorphic, intellectually normal 51-year-old woman presented with bilateral colobomata and renal failure of unclear etiology, and asymmetric sensorineural hearing loss. Family history was notable for multiple family members with various forms of cancer. Whole exome sequencing revealed a homozygous frame shift variant in FAT1, predicted to truncate the FAT1 protein at the furthest position in the protein structure published to date in a patient with coloboma.
This case provides further evidence of the pleiotropic effects of FAT1 in optic fissure closure and kidney function. Also, because this variant is in the last exon, it would be anticipated to escape nonsense-mediated decay, opening the possibility that the protein is made and expressed, but not completely functional, as its intracellular domain is truncated.

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.