Successful resolution of serous macular detachment following glaucoma-filtering surgery alone for acquired optic disc pit maculopathy.

PURPOSE: To describe a case of acquired glaucomatous optic disc pit-related maculopathy successfully treated with glaucoma filtering surgery alone. CASE DESCRIPTION: A 67-year-old male was diagnosed with advanced primary open angle glaucoma in both eyes, with a cup: disc ratio of 0.85 in the right eye and 0.95 in the left eye. Visual acuity at presentation was 20/60, and intraocular pressure was 14 mm Hg in the left eye. The fundus of the left eye revealed a serous macular retinal detachment due to an acquired optic disc pit. RESULTS: The left eye of the patient underwent combined cataract and glaucoma filtering surgery. The serous macular detachment resolved completely 15 months after surgery, with a documented visual acuity of 20/40 and intraocular pressure of 10 mm Hg without the use of additional antiglaucoma medications. There was no recurrence of serous macular detachment even after the two-year follow-up visit. CONCLUSION: This case demonstrates that controlling intraocular pressure alone resulted in complete resolution of serous macular detachment in acquired optic disc pit maculopathy without the need for pars plana vitrectomy.

Surgical approach to and morphology of visually significant persistent pupillary membranes.

PURPOSE: To characterize the morphology of persistent pupillary membranes (PPMs) in pediatric patients and explore the corresponding surgical approaches. SETTING: Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China. DESIGN: Prospective observational study. METHODS: Consecutive pediatric patients with PPMs who underwent surgery from April 2020 to July 2022 were included. PPM morphology was assessed and categorized according to its anatomic relationship with crystalline lens and distribution of iris strands. The surgical approaches for different morphologies of PPMs were described in detail. The visual outcome and operation-related complications were recorded. RESULTS: 31 eyes from 19 patients were included with the mean age of 7.2 years. 3 morphological variants of PPMs were observed: type I (51.6%, 16/31), a spider-like appearance and no adhesion to the anterior lens capsule (ALC); type II (38.7%, 12/31), a loose central adherence to the ALC and partially thick iris strands attached to the iris collarette; type III (9.7%, 3/31), a tight central adherence to the ALC and only silk-like iris strands. Surgeries were performed with a natural pupil size in type I, while dilated pupil in the other types. The adhesions between PPM and the ALC were separated by viscoelastic injection in type II and by discission needles in type III. The corrected distance visual acuity was significantly improved from 0.34 ± 0.18 logMAR preoperatively to 0.17 ± 0.09 logMAR postoperatively ( P < .001). No operation-related complications were observed during 9.5-month follow-up. CONCLUSIONS: PPMs were categorized into 3 types according to their different morphologies, which helped to determine the best surgical strategy.

Surgical management of a case of double optic disc pits with maculopathy.

BACKGROUND: Double optic disc pit maculopathy is a rare entity. It can be difficult to manage because of excessive leakage and chronic maculopathy. PURPOSE: To describe surgical management in a case of double optic disc pits with maculopathy. SYNOPSIS: A 42-year-old male presented with double optic disc pits with macular detachment in the left eye. The best-corrected visual acuity (BCVA) was 20/60, N12. Preoperative OCT showed the presence of two disc pits. The macular region had large retinoschisis and subretinal fluid (SRF) with a central foveal thickness of 879 microns and loss of the ellipsoid zone. A shallow communication from the temporal aspect of the disc to the submacular area was also noted. Among the options of observation, laser photocoagulation, and surgery, the patient opted for surgical management. SURGICAL TECHNIQUE: A standard-3 port 23-gauge pars plana vitrectomy was done. After staining the ILM with brilliant blue, ILM peeling was done with the help of forceps and Finesse loop. ILM flaps were inverted over to cover the optic disc pits and sealed with a drop of fibrin glue. Next, 20% SF6 gas was used for tamponade. Pre- and post-surgery parameters such as visual acuity and OCT were evaluated. POSTOPERATIVE EVALUATION: After 6 weeks, left eye BCVA was 20/40 with OCT showing reduced SRF and reduced intraretinal schisis with a foveal thickness of 546 microns. At 3 months of follow-up, the vision in the left eye had improved to 20/30 with further reduction in the retinoschisis and foveal thickness of 482 microns. HIGHLIGHTS: In this interesting case, we demonstrate a unique way of sealing the defect surgically by vitrectomy and inverted ILM flap with fibrin glue over the disc pits. Despite sealing the maculopathy is slow to resolve. VIDEO LINK: https://youtu.be/s9nY5UPe1s4.

Penetrating keratoplasty in brittle Cornea syndrome: Case series and review of the literature.

It concerns three siblings (two 28 year old twin boys and a 25 year old woman) who presented a previous history of rupture of eyeball in one eye and very poor vision in the other. At the first ophthalmoscopic and instrumental evaluation, three patients presented with bluish sclera and keratoglobus in the intact eye. A genetic analysis with whole exome sequencing was then performed on the three siblings, identifying a biallelic variant of the PRDM5 gene that led to the diagnosis of Brittle Cornea Syndrome (BCS), a rare autosomal recessive disorder characterized by corneal thinning and blue sclera. To preserve the only intact eye from possible breakage, the three siblings were trained in using protective measures (polycarbonate goggles etc.) to carry out close monitoring of symptoms and were asked to continue with follow-up visits for ocular and systemic diseases associated with BCS. Given the poor best corrected visual acuity achievable with glasses and contact lenses, penetrating keratoplasty was performed, achieving good visual acuity maintained in the 2-year follow-up in two of the three patients. Knowledge of this pathology and its clinical manifestations is essential for early diagnosis and correct management of this rare but very debilitating pathology. To our knowledge, this is the first case series of BCS reported in an Albanian population.

Improved Facial and Skull-Base Symmetry following Osteotomy and Distraction of Unilateral Coronal Synostosis.

BACKGROUND: Unilateral coronal synostosis (UCS) results in a surgically demanding deformation, as the deformity is asymmetric in the calvaria but also presents with facial scoliosis and orbital dystopia. Traditional cranioplasties correct the forehead but have little effect on the face and orbits. In this article, the authors describe a consecutive series of patients operated on for UCS with osteotomy of the fused suture combined with distraction osteogenesis. METHODS: Fourteen patients (mean age, 8.0 months; range, 4.3 to 16.6 months) were included in this study. The authors measured and compared the orbital dystopia angle, anterior cranial fossa deviation, and anterior cranial fossa cant between preoperative computed tomography results and those at distractor removal. RESULTS: Blood loss was 6.1 mL/kg (range, 2.0 to 15.2 mL/kg), and length of stay was 4.4 days (range, 3.0 to 6.0 days). The authors observed significant improvements in the median orbital dystopia angle from 9.8 degrees (95% CI, 7.0 to 12.6 degrees) to 1.1 degrees (95% CI, -1.5 to 3.7 degrees) ( P < 0.001), anterior cranial fossa deviation from 12.9 degrees (95% CI, 9.2 to 16.6 degrees) to 4.7 degrees (95% CI, 1.5 to 7.9 degrees) ( P < 0.001), and anterior cranial fossa cant from 2.5 degrees (95% CI, 1.5 to 3.5 degrees) to 1.7 degrees (95% CI, 0.0 to 3.4 degrees) ( P = 0.003). CONCLUSIONS: Osteotomy combined with a distractor for UCS straightened the face and relieved orbital dystopia by affecting the nose angle relative to the orbits, correcting the deviation of the cranial base in the anterior fossa, and lowering the orbit on the affected side. Furthermore, this technique demonstrated a favorable morbidity profile with low perioperative bleeding and a short inpatient period, suggesting its potential to improve the surgical treatment of UCS. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, IV.

OCT-angiography in optic disk pit after inverted ILM flap: A case report.

BACKGROUND: To describe OCT-angiography features in a case of an optic disk pit (ODP) which underwent a pars plana vitrectomy with inverted ILM flap for macular detachment. CASE PRESENTATION: A 12 years old child with an ODP responsible for a macular detachment underwent 23G vitrectomy in the subacute phase of the disease with an inverted ILM flap used as a plug over the lateral dehiscence of the pit. Among the various retinal imaging examinations performed in the post-operative period, the OCT-angiography showed very interesting features characterized by a capillary drop-out in correspondence of the superficial and deep capillary plexus, a fine texture of the choroid capillary layer and star-shaped folds in correspondence of both the outer retina and the choroid capillary layer. OCT-A performed 24 months after surgery showed a normalization of the macular perfusion which correlated with a full recovery of the visual acuity of the young child. CONCLUSIONS: OCT-A is an useful tool to monitor the subretinal fluid reabsorption after ILM inverted flap surgery for ODP-maculopathy and correlates with visual function. OCT-A may be useful in the follow-up of this rare condition as well as its response to therapeutic strategies.

Cleft Lip With Ankyloblepharon Filiforme Adnatum: A Case Report.

Ankyloblepharon filiforme adnatum (AFA) is a rare, benign congenital anomaly. Notably, it is characterized by the adhesion of the ciliary edges of the upper and lower eyelids at the trabecular line. AFA is usually a solitary malformation of sporadic occurrence; however, it can occur in conjunction with other congenital diseases. Herein, we report a case of cleft lip with AFA. A patient was referred to the ophthalmology department of our hospital. The ophthalmic diagnosis was AFA in both the eyes. The left eye was observed to have a fibrous adhesion in the center, and she underwent surgery to excise the fibrous adhesion of tissue with scissors. The right eye was observed to have a fibrous adhesion in the external canthus and was excised during lip plasty. After surgery, her eyes were able to fully open, and no other apparent disease was diagnosed. AFA is thought to be caused by an ectodermal-derived developmental abnormality. Notably, cases of AFA with a cleft lip are rare. Diagnosis and surgery should be performed promptly to minimize any risk of amblyopia and for the early detection of congenital diseases, including glaucoma.

[Optic pit maculopathy: incidence and clinical course]. / Grubenpapillen-Makulopathie: Inzidenz und klinischer Verlauf.

PURPOSE: The aim of this case series was to investigate the clinical course of patients with optic pit maculopathy. METHODS: The medical records of all patients diagnosed with optic pit maculopathy in the past 10 years were reviewed. Optic pit maculopathy was diagnosed when localized intraretinal or/and subretinal fluid spread from the optic nerve to the macula. Outcome measures included changes in best corrected visual acuity (BCVA), central retinal thickness (RT) as well as nasal parafoveal and perifoveal RT. RESULTS: An optic disc pit was detected in 18 patients (9 female, 9 male, mean age: 33 ± 23 years). Retinal fluid accumulation was present in 6 (33.3%) of the patients (1 intraretinal, 1 subretinal, 4 intraretinal and subretinal). Pars plana vitrectomy with removal of peripapillary vitreous traction and peeling of the internal limiting membrane (ILM) was indicated in 5 patients and was performed in 4 patients. One patient underwent nanopulse laser treatment instead. The patients with optic pit maculopathy were 47 ± 16 years old. In this group of patients, mean BCVA (decimal) improved from 0.3 ± 0.2 before treatment to 0.5 ± 0.2 3 months after treatment (p = 0.03). Visual acuity improved in all patients with optic disc pit maculopathy after pars plana vitrectomy. The mean central RT decreased from 796 ± 214 before treatment to 324 ± 57 3 months after treatment (p = 0.005). The mean nasal parafoveal RT decreased from 683 ± 87 before treatment to 372 ± 41 (p = 0.0003) and the mean nasal perifoveal RT decreased from 547 ± 89 before treatment to 360 ± 48 (p = 0.007). A completely dry macula was achieved in 4 eyes after a mean follow-up of 3 months. At long-term follow-up (2.5 ± 1.2 years), no recurrence occurred in the vitrectomized eyes. CONCLUSION: This case series showed that more than one third of the patients had optic pit maculopathy presumably caused by disruption of the Kuhnt intermediate tissue. Interventional treatment was indicated in all cases, of which 4 were surgically treated and resulted in significant improvement of function and anatomical retinal structures.

Modified horizontal muscle transposition without tenotomy and splitting for a case of inferior rectus and inferior oblique muscles aplasia with hemifacial microsomia.

Aplasia of the inferior rectus and inferior oblique muscles is extremely rare. Failure of the normal embryologic development of the inferior mesodermal complex can lead to agenesis of inferior rectus, inferior oblique, and lower sections of the lateral rectus muscles. This rare condition is usually seen in association with craniofacial syndromes or in conjunction with microcornea, microphthalmos, Axenfeld-Rieger syndrome, and coloboma. The usual treatment for this condition is a reverse Knapp procedure to improve the vertical alignment; however, this procedure can lead to complications, such as anterior segment ischemia, undercorrection, and torsional problems. To our knowledge, unilateral inferior rectus and inferior oblique muscle aplasia has not been described previously in a patient with congenital facial nerve palsy and optic nerve hypoplasia. In the present case, the patient was successfully treated with a modified minimally invasive horizontal rectus muscle transposition procedure.

Therapeutic visual rehabilitation in a patient with high hyperopia and flat cornea years after radial keratotomy.

A 51-year-old man was referred for refractive surgery evaluation. Spectacle dependence and poor visual quality in both eyes was his chief complaint. He cannot tolerate contact lenses. Corrected distance visual acuity (CDVA) was 20/40 in both eyes. Manifest refraction was +5.25 -2.25 @ 90 (20/40) in the right eye and +6.25 -2.25 @ 105 (20/40) in the left eye. The patient had a history of radial keratotomy (RK) almost 30 years ago in both eyes and at the slitlamp presented 8 RK incisions, proportionally spaced between one another. All incisions were closed, and there were no relevant signs of scarring. The patient denied any history of ocular trauma, systemic disease, or medications. Corneal topography with different technologies revealed an irregular pattern with marked central flattening in both eyes, with some points below 30 diopters (D) (Supplemental Figures 1 and 2, available at http://links.lww.com/JRS/A862 and http://links.lww.com/JRS/A863, respectively). There were no signs of cataract, and fundus examination was normal. Optical coherence tomography (OCT) of the right eye revealed a more homogeneous thickness pattern, little variation between the thinnest and thickest areas, and adequate transparency (Figure 1JOURNAL/jcrs/04.03/02158034-202306000-00018/figure1/v/2023-05-31T172126Z/r/image-tiff). In the left eye, there is wide variability between the thinnest and thickest stromal points, with annular thinning and central thickening (Figure 2JOURNAL/jcrs/04.03/02158034-202306000-00018/figure2/v/2023-05-31T172126Z/r/image-tiff). Both eyes show marked epithelial irregularity. Considering this patient's current ocular status, how would you reach visual rehabilitation? Because he is contact lens intolerant, would you consider surface ablation, for example, photorefractive keratectomy (PRK) with mitomycin-C (MMC)? If that were the case, would you think of an optimized or a topography-guided (TG) treatment? Would you immediately consider a corneal transplant option? Would you instead consider a more conservative approach? Which one and why?

Surgical repair of interrupted right-sided cervical aortic arch with hypoplasia of the descending thoracic aorta in a child with PHACE syndrome.

Obstruction of a right cervical aortic arch in association with hypoplasia of the descending aorta is a rare congenital cardiac malformation. We report the case of a 6-month-old boy with posterior fossa anomalies, hemangioma, arterial anomalies, cardiac anomalies and eye anomalies (PHACE) syndrome and interruption of a right-sided cervical aortic arch. The descending thoracic aorta in the child had a long hypoplastic segment and the patient also had small ventricular septal defect and pulmonary valve stenosis. The surgical technique of reconstruction of the aortic arch and the descending thoracic aorta through a median sternotomy is described.

[A newborn patient with bilateral ankyloblepharon filiforme adnatum: a case report].

A male neonate who was unable to open both eyes with the adhesion of upper and lower palpebral margins since birth was clinically diagnosed as bilateral ankyloblepharon filiforme adnatum. The fused eyelids were divided surgically under general anesthesia. The neonate can open and close eyes normally with right positions of eyelids and flexible movements of eyeballs to follow light after the surgery.

Peters Anomaly: Novel Non-Invasive Alternatives to Penetrating Keratoplasty.

BACKGROUND: Peters' anomaly (PA) is the most commonly encountered congenital corneal opacity (CCO) and displays a wide phenotypical range. The relatively recent adoption of high-quality anterior segment imaging in the form of high-frequency ultrasound biomicroscopy and anterior segment optical coherence tomography has aided in the accurate diagnosis of CCOs, facilitated distinction of PA from "pseudo-Peters' anomaly," and aided in prognostication and surgical risk stratification in PA. While the definitive management of PA, especially the more severe forms, is penetrating keratoplasty (PK), long-term success rates have overall been disappointing. This spurred the development of more non-invasive procedures, such as optical iridectomy and the more recently described selective endothelial removal, which represent viable alternatives to PK, at least in the less severe phenotypes of PA. METHODS: Literature searches for the components of this review were performed using PubMed, in September 2021. The following keywords and their iterations were employed for the searches: "Peters' anomaly," "anterior segment dysgenesis," "kerato-irido-lenticular dysgenesis," "congenital corneal opacities." These were entered into the PubMed search engine, revealing 2852 related articles. The inclusion criteria included publications in the English language, specific to Peters' anomaly. Fifty-five studies that were published as systematic reviews or as nonrandomized comparative studies (cohort or case series) on the topic of Peters' anomaly were finally selected for this review. RESULTS: This review provides a summary of Peters' anomaly in the context of advances in diagnosis, classification, and genotype-phenotype correlation of congenital corneal opacities, with a focus on penetrating keratoplasty, its outcomes, and non-invasive surgical options. While conservative therapies such as spontaneous clearing, mydriatic eye drops, and optical iridectomy may have variable success in milder variants of PA, penetrating keratoplasty in these eyes is fraught with several challenges and typically results in poor long-term functional outcomes. The management strategy depends on several variables such as phenotypical severity of PA, laterality, age at presentation, and capacity to adhere to the follow-up schedule. Notwithstanding the choice of treatment, it is essential that early and aggressive amblyopia therapy, a thorough systemic examination, and appropriate referral are undertaken for all patients of PA. CONCLUSION: Peters' anomaly has seen recent advances in diagnosis, but treatment options remain limited. Focus directed towards less-invasive alternatives to keratoplasty may yield better functional outcomes.

Axenfeld-Rieger syndrome combined with ectropion uveae and pigment dispersion syndrome: A case report.

BACKGROUND: In January 2021, we found one case of Axenfeld-Rieger syndrome combined with pigment dispersion syndrome (PDS), and this patient additionally manifested a symptom of ectropion uveae. The co-existence of both 2 syndromes is very rare and has not been reported in any literature yet. CASE PRESENTATION: A 34-year-old female truck driver presented to our institution with a dimness of vision in her right eye. The patient had obvious posterior embryotoxons at bitamporal, and peripheral anterior synechia could be visualized by the slit lamp. The dispersion of pigment granules was observed behind the cornea. The pupil was slightly shifted upwards the nose, with 360° ectropion uveae. Gonioscopy revealed pigment accumulation on the trabecular meshwork. The patient underwent cataract surgery on her right eye, during which, flaky pigmentation around the posterior capsule was observed. These signs were consistent with Axenfeld-Rieger syndrome and PDS. CONCLUSIONS: We report a rare case of Axenfeld-Rieger syndrome with PDS and uveal eversion. Although the patient did not present with glaucoma, follow-up should be noted. Besides, the correlation between these 2 syndromes needs to be demonstrated by more cases or further evidence.

Management of recurrent optic disc pit-associated maculopathy with human amniotic membrane graft in a pediatric case.

Background: Optic disc pit-associated maculopathy (ODP-M) is a rare presentation in children. Therefore, only a few pediatric cases successfully managed have been reported in the literature. This video shows successful management of ODP-M with human amniotic membrane graft in a pediatric case presenting with recurrence with intraoperative optical coherence tomography (OCT). Purpose: To demonstrate a successful management of ODP-M with human amniotic membrane graft in a pediatric case presenting with recurrence. Synopsis: A 13-year-old patient who had been previously operated with 25-G pars plana vitrectomy with double internal limiting membrane peel and juxtapapillary endolaser with SF 6 gas tamponade for optic disc pit-associated maculopathy (ODP-M) presented with recurrence 9 months after primary surgery. Three 25-G sclerotomies were made and human amniotic membrane graft was tucked into the ODP; the position of the graft was confirmed with intraoperative ocular coherence tomography. Subretinal fluid rapidly resolved within 48 h and best-corrected visual acuity improved to 0.5 logMAR after one week. Later follow-ups showed no complications or recurrence. Highlights: This video shows successful management of ODP-M with human amniotic membrane graft in a pediatric case presenting with recurrence with intraoperative optical coherence tomography (OCT), without any additional tamponade. Video Link: https://youtu.be/rM79P7oU7GE.

Iris abnormalities may influence the efficacy and filtration strategies of Posner-Schlossman syndrome: a retrospective study involving trabeculectomy, ExPRESS and Ahmed valve implants.

PURPOSE: To evaluate and compare the one-year efficacy and influencing factors of different filtration surgeries on Posner-Schlossman syndrome (PSS) patients. METHODS: A retrospective study enrolling 91 PSS patients who underwent filtering surgeries and were followed for at least one year. Unilateral PSS was diagnosed as recurrent attacks of mild, unilateral, non-granulomatous anterior uveitis, elevated intraocular pressure (IOP), keratic precipitates (KPs) on the corneal endothelium, open angle, no posterior synechia, and no inflammatory lesions in the posterior segment; the IOP and anterior segment returned to normal between attacks. Medical histories and thorough ocular examination results were collected. Trabeculectomy and ExPRESS were chosen as the first line and AGV was considered for those under high risk of fibrosis. Follow-up data, mainly IOP, best-corrected visual acuity (BCVA), and anterior segment manifestations at the 1st week, 6th month, and 12th month were generated and analyzed. Iris abnormalities were determined by depigmentation or atrophic changes on the anterior segment photograph. Complete surgical success was defined as 5 mmHg < IOP ≤ 21 mmHg without IOP-lowering drug or needle revision; qualified surgical success was defined as 5 mmHg < IOP ≤ 21 mmHg with IOP-lowering drugs or needle revisions. Survival analysis was performed to obtain the success rates. RESULTS: At the 12th month, the complete surgical success rate of trabeculectomy (N = 54), ExPRESS (N = 23), and AGV group (N = 14) was 58.97% (95%CI 46.91-77.09%), 84.21% (95%CI 68.33-100.87%), and 100%; the qualified success rate was 71.79% (95%CI 62.46-88.34%), 89.47% (95%CI 77.07-103.33%), and 100%, respectively. Patients undergoing trabeculectomy experienced the largest decline of BCVA (from 0.58±0.46 to 1.01±0.51, P < .05); the trabeculectomy group endured the highest IOP (20.84±9.92 mmHg) compared to ExPRESS (14.51±2.86 mmHg, P < .05) and AGV group (13.17±3.32 mmHg, P < .05). At the 12th month, in the ExPRESS group, patients with iris abnormalities had higher IOP than the normal ones (15.65±2.05 mmHg, 12.93±3.17 mmHg, P < .05). ExPRESS helped patients with iris abnormalities maintain lower IOP than trabeculectomy (15.65±2.05 mmHg, 22.52±10.67 mmHg, P < .05). Three patients developed hypotony at the 3rd month (1 in ExPRESS and 2 in trabeculectomy group). CONCLUSION: AGV and ExPRESS performed better than trabeculectomy in PSS patients in terms of IOP and success rate. Iris abnormalities might influence the postoperative IOP and this may be valuable in guiding filtration strategies. TRIAL REGISTRATION: Chinese Clinical Trial Registry (No. ChiCTR1800017532, date: 2018/08/02).

Management of Optic Disk Pit-associated Macular Detachment with Human Amniotic Membrane Patch.

PURPOSE: To report a new surgical technique involving a human amniotic membrane patch (hAM) to solve a serous macular detachment associated with optic nerve head pit. METHODS: Three eyes of three patients affected by macular detachment associated with optic nerve head pit were enrolled. A 23-gauge pars plana vitrectomy were performed. hAM patch was implanted inside the optic nerve pit; air was used as endotamponade. The patients were instructed to maintain face-down position for the first days after surgery. RESULTS: The subretinal fluid gradually resolved during 6 months of follow-up, and visual acuity improved to 20/25 at the sixth month after surgery. We did not observe a recurrence of subretinal fluid during the 6 months of follow-up. No postoperative complications were reported during the follow-up. CONCLUSION: Implant of the hAM may be effective to repair optic disk pit maculopathy. All the cases were successful with encouraging visual acuity recovery.

OPTIC DISK COLOBOMA AND CONTRALATERAL OPTIC DISK PIT MACULOPATHY TREATED BY VITRECTOMY IN A PATIENT WITH NOONAN SYNDROME WITH MULTIPLE LENTIGINES.

PURPOSE: To report a case of Noonan syndrome with multiple lentigines with unusual ocular features. METHODS: The authors describe a case of a 7-year-old girl with Noonan syndrome with multiple lentigines and anomalous optic disks. RESULTS: A 7-year-old girl with genetically proven Noonan syndrome with multiple lentigines ( PTPN11 gene mutation) and anomalous optic disks was referred for treatment of persistent macular detachment after 1 year of conservative follow-up. The right eye demonstrated an optic disk coloboma with the best-corrected visual acuity of 20/32, the left eye demonstrated an optic disk pit with serous macular detachment (best-corrected visual acuity 20/50-20/80). Optical coherence tomography demonstrated a neurosensory detachment. Twenty-five gauge pars plana vitrectomy was performed with posterior hyaloid detachment, drainage over disk pit area, and SF6 20% gas tamponade. Surgery resulted in subretinal fluid reduction and improvement of the visual acuity to 20/32. CONCLUSION: A case of Noonan syndrome with multiple lentigines with optic disk coloboma in the right eye and optic disk pit with related maculopathy in the left eye. To the best of the authors' knowledge, this is the first reported case describing the association of Noonan syndrome with multiple lentigines and congenital optic disk anomalies. Optic disk pit maculopathy was managed surgically because of its longstanding nature with the deteriorating visual acuity.

Possible association between viral infection and poor survival of the corneal graft after penetrating keratoplasty in patients with congenital corneal opacity: a cohort study.

BACKGROUND: Congenital corneal opacity (CCO) is a rare disorder. Penetrating keratoplasty (PK) is the main surgical option for CCO, but many factors affect graft survival. Therefore, this study aimed to perform a virological examination of CCO specimens after PK to explore the relationship between virological factors and graft survival after PK. METHODS: This prospective study included consecutive patients (<6 months of age) diagnosed with CCO and treated with PK at Beijing Tongren Hospital from August 2017 to January 2018. Next-generation sequencing was used to detect viral DNA in the CCO specimens. The survival of the primary graft was analysed using the Kaplan-Meier method. RESULTS: Overall, 24 eyes of 24 infants were treated with PK during the study period. The mean age at surgery was 4.8±1.1 months. Epstein-Barr virus DNA was detected in two specimens, varicella-zoster virus DNA in one specimen, herpes simplex virus DNA in three specimens and cytomegalovirus DNA in one specimen. In the virus-positive group, only one (14.3%) graft remained clear during follow-up. In contrast, in the virus-negative group (n=17), 13 (76.5%) grafts were still clear at the last follow-up. The mean survival of the grafts in the virus-positive group was significantly shorter than in the virus-negative group (11.0±9.8 months vs 27.1±7.7, p<0.001). CONCLUSION: The presence of viral DNA in CCO specimens might be associated with poor graft survival after PK.