Surgical correction of involutional lower lid entropion with lateral canthal eyelid block excision and imbrication of the capsulopalpebral ligament using non-buried non-resorbable imbricating sutures versus buried resorbable imbricating sutures

Purpose: To compare the results of surgical correction of involutional lower eyelid entropion using either buried resorbable imbricating sutures or non-buried non-resorbable sutures that were removed after five to seven days.

Methods: Retrospective analysis of a two-surgeon series. Analysis of the charts of patients surgically treated for involutional lower eyelid entropion between January 2011 and December 2014 with a minimum follow-up of 12 months. Main outcome measures: Recurrence rate, postoperative complications.

Results: We included 281 eyelids of 240 patients. Of these, 89 eyelids had been treated with buried resorbable imbricating sutures (surgeon WvdB) and 192 with non-buried non-resorbable sutures (surgeon DP). Of the 281 eyelids, 77 eyelids had undergone previous entropion surgery.

In the buried resorbable suture group (group R), the mean follow-up was 30 months (range 12 to 61 months) versus 39 months (range 14 to 60 months) in the non-buried non-resorbable group (group NR) (p = 0.07). With a follow-up of up to 18 months, the recurrence rate was 2.2% in group R and 4.2% in group NR (p = 0.73). With a similar follow-up, the recurrence rate was 3.9% after primary surgery versus 2.6% in recurrent cases (p = 0.73). Minor postoperative complications and side-effects were seen in 5.3% (15/281).

Conclusion: We found no difference in the recurrence rate between the use of buried resorbable imbricating sutures and non-buried non-resorbable sutures and between primary versus recurrent cases. We conclude that we can safely use buried resorbable imbricating sutures in involutional entropion. It yields comparable results and omits the need for suture removal.     

Multiple Evanescent White Dot Syndrome Following Intradermal Influenza Vaccination

Purpose: To present a case report of MEWDS following an intradermal influenza vaccination.

Methods: Review of the clinical, laboratory, photographic, and angiographic records of a patient with MEWDS.

Results: 27-year-old female that presented to our clinic with photopsias OD. These symptoms began 2 weeks following an influenza intradermal vaccination.

Fundus examination and diagnostic testing were consistent with MEWDS.

Conclusion: While rare, MEWDS can occur following influenza vaccination.     

Evidence of retinal degeneration in Wolfram syndrome

Purpose: Wolfram syndrome is characterized by early onset diabetes mellitus, diabetes insipidus, deafness, and optic atrophy, but retinal degeneration has not been described as a major component of the phenotype. We present two cases with Wolfram syndrome and evidence of retinal degeneration.

Materials and Methods: Observational case series. Patients underwent complete ocular examinations as well as retinal imaging and electroretinography.

Results: Both patients had electroretinographic evidence of retinal dysfunction/degeneration in addition to optic atrophy with an otherwise normal-appearing retina.

Conclusions: Some patients with Wolfram syndrome have a mild retinal degeneration that may be a manifestation of the neuronal involvement that is present in this condition.     

Adherence syndrome following inferior oblique anteropositioning – a case report

Introduction: We report a case of inferior oblique (IO) muscle adherence with fat adherence, which developed following unilateral IO anteriorization (IOAT).

Methods: A 14-year-old child with V pattern left exotropia, bilateral IO overaction, bilateral dissociated vertical deviation (DVD), and strabismic amblyopia (OS) underwent recess/resect procedure along with IOAT. He developed consecutive esotropia and drooping of upper eyelid with marked limitation of levoelevation (?4). Differential diagnoses of antielevation syndrome and adherence syndrome were considered.

On surgical exploration, forced duction test (FDT) was positive for elevation, left inferior oblique (LIO) muscle insertion was found anterior to the inferior rectus (IR) insertion along with fat adhesions which were released and IO muscle was reattached 3 mm behind and 2 mm lateral to IR insertion, along with advancement of left lateral rectus.

Results: Following resurgery, the patient had six prisms left esophoria and a hypotropia 9 prisms, with minimal limitation of levoelevation (?1). One month later, it was seen that the hypotropia had increased to 18 prism diopters and limitation of elevation was ?2.

Conclusions: Adherence syndrome is a rare and severe complication of IO weakening procedures. The initial postoperative improvement achieved in elevation and hypotropia in primary position was not maintained over subsequent follow-ups.     

Total Corneal Melt in Patient with Porphyria Cutanea Tarda in Presence of Another Risk Factor

Purpose: To report a case of two siblings affected by porphyria cutanea tarda (PCT) presenting with varying severity of ocular disease and evaluation of difference in the presence of risk factors.

Methods: Case report

Result: A 42-year-old Indian male diagnosed with PCT and history of daily intake of alcohol, presented with sudden decrease in vision of right eye. Examination showed perforated cornea surrounded by rim of 360-degree avascular necrotic sclera, with no evidence of infection.

Similar systemic history was present in his elder brother. He did not consume alcohol and presented with mere localized scleral thinning. Since the patient’s sibling acted as a natural control for the evaluation of alcohol as an independent risk factor, the difference in severity of disease can be explained on the basis of difference in alcohol intake.

Conclusion: In the presence of progression of the disease, other risk factors like intake of alcohol should be evaluated.     

Role of OCT Angiography in the Detection of Retinal Vascular and Macular Abnormalities in Subjects with Asteroid Hyalosis

Purpose: To study the role of Optical coherence tomography (OCT) Angiography (OCTA) in detecting retinal vascular and macular abnormalities as compared to Fundus Fluorescein Angiography (FFA) in subjects with Asteroid hyalosis (AH).

Methods: In a prospective study, patients with AH underwent OCTA and FFA. AH graded as Grade 1 in 8 (optic disc, second order vessels visible), Grade 2 in 4 (optic disc, first-order vessels visible), Grade 3 in 11 (hazy view of optic disc) and Grade 4 (no view of fundus) in 2 eyes.

Results: A total of 20 patients (25 eyes) with AH were included. In comparison to FFA, OCTA was able to similarly detect Diabetic Retinopathy changes such as Neovascularization, microaneurysms, capillary dropout, and foveal avascular zone extent in vascular occlusion in all grades of AH.

Conclusion: OCTA, a noninvasive imaging tool, could detect various retinal vascular and macular abnormalities in patients with all grades of AH in comparison to FFA.     

A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa

Background: Inherited retinal degenerations (IRDs) encompass a wide spectrum of genetic ocular diseases characterized by considerable genetic and clinical heterogeneity.

Methods: Complete ophthalmic examination and next-generation sequencing.

Results: We describe a patient with no family history of vision loss, who at the age of 28 years developed visual impairment consistent with a severe form of retinitis pigmentosa. Genetic testing by means of whole exome sequencing identified a homozygous variant in the gene IDH3A. To date, only three papers have reported mutations in IDH3A, in families with early-onset retinal degeneration with or without the presence of macular pseudocoloboma.

Conclusion: This study highlights the importance of including this rarely-mutated gene in the molecular diagnostic set-ups for IRDs, and further delineates the phenotypic spectrum elicited by mutations in IDH3A.     

Time Course of Subretinal Proliferation after Scleral Buckling for Rhegmatogenous Retinal Detachment Repair

Purpose: To observe course of subretinal proliferation (SRP) after scleral buckling (SB) for the rhegmatogenous retinal detachment.

Methods: Fundus photographs and serial optical coherence tomographies (OCTs) were retrospectively analyzed in 10 cases from 9 patients.

Results: Preoperative SRP locations were beneath the retina in six cases, intraretinal in one, and between the retina and retinal pigment epithelium (RPE) in one. One demonstrated SRP heterogeneity. Final SRP locations were intraretinal in two, on the RPE in seven, and beneath the retina in one. In two, the SRP invaginated into the retina while being absorbed.

Conclusions: Detached retina can be reattached following retinal break occlusion by SB, although the remaining SRP can disturb the reattachment. OCT images of SRP demonstrated various features. Before surgery, the SRPs were typically strand-like types located beneath the retina. Postoperatively, they were located on the RPE. In some cases, they invaginated into the retina.     

Temporomandibular Disorder: An Important Cause of Temporal Headache in Patients Unlikely to Have Giant Cell Arteritis

Introduction: Temporal headache often results in an Ophthalmology referral to rule out giant cell arteritis (GCA). When clinical suspicion of GCA is low, alternative diagnoses should be considered. Temporomandibular disorder (TMD) commonly causes a temporal headache.

Materials and Methods: Patients referred with a temporal headache attending the Friday emergency ophthalmology clinic from February to July 2017 were assessed for GCA using the American College of Rheumatology (ACR) diagnostic criteria and TMD using a validated screening questionnaire.

Results: Ten symptomatic patients presented and were screened for TMD during this period. Four had mild TMD, two moderate, and three severe. The mean TMD score in patients with less than 3 ACR GCA criteria was 14.75 (SD 4.03) versus 6.8 (SD 3.06) in patients with 3 or more criteria (p = 0.0075).

Conclusion: TMD is an important cause of a temporal headache in patients unlikely to have GCA. Onward referral to dentistry for further management may be merited.     

Horizontal gaze palsy and progressive scoliosis with two novel ROBO3 gene mutations in two Jordanian families

Background: Horizontal gaze palsy and progressive scoliosis (HGPPS) is a rare autosomal recessive disorder due to mutations in ROBO3 gene. Patients have characteristic clinical and imaging findings. We report six patients from two families with this disorder with two novel mutations.

Materials and methods: One patient from a non-consanguineous family and five patients from extended consanguineous families were clinically and radiologically examined. Blood samples from the patients and their parents were obtained and all the coding exons and flanking intronic sequences of the ROBO3 gene were amplified and subjected to bidirectional DNA sequencing.

Results: All six patients had the characteristic clinical and radiological findings of HGPPS. Genetic testing showed two novel mutations including frame-shift and nonsense.

Conclusion: Two novel mutations in the ROBO3 gene were identified in two Jordanian families with six affected individuals. To our knowledge, this is the first molecular study of HGPPS in Jordan.     

The ‘over-the-top’ modified Cutler–Beard procedure for complete upper eyelid defect reconstruction

Purpose: To describe the ‘Over-the-Top’ Modified Cutler Beard Procedure (OTTMCB) for complete upper eyelid defect reconstruction

Methods: This is retrospective case note review of four patients that underwent the OTTMCB procedure. This two-stage procedure comprises the replacement of the posterior lamella with a free tarsal graft from the contralateral upper eyelid, and the anterior lamella with a lower lid skin flap over the lower eyelid margin which is divided 2–4 weeks later.

Results: The procedure was undertaken for four patients with 75–90% upper eyelid defects from tumour excision surgery. One patient had post-operative dehiscence requiring debridement and resuturing and further reconstructive surgery 18 months later to improve the cosmesis and lagophthalmos. The other three patients had good functional and cosmetic outcomes.

Conclusions: The OTTMCB procedure replaces the anterior and posterior lamellae of the upper eyelid with ‘like-for-like’ tissues. It avoids some of the drawbacks of the original and other variations of the Cutler–Beard procedure and achieves a good cosmetic outcome.     

XEN Implant for Glaucoma Treatment: A Review of the Literature

Purpose: The purpose of this review is to summarize current knowledge on XEN implant for the treatment of glaucoma.

Methods: A comprehensive literature review has been performed regarding XEN implant and its use on glaucoma management. Forty-two articles were checked and 37 were found to be relevant. Out of them, 21 were excluded as being case reports and reviews and the remaining 16 were eligible for the purpose of our review.

Results: There was a significant reduction in intraocular pressure as well as in the number of medications needed in glaucoma patients treated with XEN implant either alone or combined with cataract surgery. In addition, combination of XEN implant with Baerveldt tubes has been shown to be beneficial in cases of refractory glaucoma, although complications may be present in this technique. Moreover, uveitic glaucoma may be a potential application of XEN implant.

Conclusions: XEN implant devices have been developed as a surgical alternative for glaucomatous patients and are expected to play an important role in the management of glaucoma in the future.     

A giant dermoid cyst of the orbit

To describe a unique case of a non-germinomatous germ cell tumor, a giant orbital dermoid, present in adulthood.

A 31-year-old male presented in our clinic with gradual, painless, progressive proptosis in the left eye since 28 years associated with gradual loss of vision. The left eye showed gross proptosis. Ocular structures could not be made out. Computed tomography scan showed a well-circumscribed oval heterogeneous mixed solid and cystic lesion completely filling the left orbit with calcification. The differential diagnosis was that of either teratoma or optic nerve glioma.

The patient underwent excision of the lesion. Histopathology revealed a capsulated tumor with multiple cystic components filled with blood and eosinophilic material suggestive of a dermoid cyst.

Non-germinomatous germ cell tumors may present atypically in adults and neglected benign dermoid cysts can attain massive size mimicking malignant lesions.     

Increased microvascular disease in X-linked and autosomal recessive Alport syndrome: a case control cross sectional observational study

Background: Retinal microvascular disease reflects, in part, poor blood pressure control and systemic microvascular disease contributes to renal failure progression. This study examined the retinal microvasculature in Alport syndrome.

Materials and Methods: Retinal images from 28 males and 28 females with X-linked Alport syndrome, and 13 individuals with autosomal recessive disease were reviewed retrospectively for microvascular/ hypertensive retinopathy (Wong and Mitchell classification), and small vessel calibre (using a computerised semiautomated method and revised Knudtson formula). Data were compared with age and gender-matched individuals with normal blood pressure and renal function.

Results: Microvascular/hypertensive retinopathy was more common in males and females with X-linked Alport syndrome than age- and gender-matched controls (23, 82% and 10, 36%, p < 0.01; and 21, 75% and 13, 48%, p = 0.05, respectively), and in individuals with autosomal recessive disease compared with controls (12, 92% and 16, 43%, p < 0.01). Moderate microvascular/hypertensive changes were present in males and females with X-linked or autosomal recessive disease but not controls.

Arteriolar calibre was reduced in males with X-linked disease (142.5 ± 18.7 µm, and 150.7 ± 10.1 µm, p = 0.046) and in autosomal recessive disease (133.5 ± 11.10 µm and 149.1 ± 10.6 µm, p < 0.0001).

Microvascular/hypertensive retinopathy and arteriolar narrowing in males with X-linked disease were not different after renal transplantation and before (p NS).

Conclusions: Microvascular/hypertensive retinopathy was more common and more severe in Alport syndrome than normotensive controls. Improved BP levels may further slow the rate of renal functional decline in Alport syndrome.     

Revision eDCR using a superior pedicled mucosal flap

Background: Endoscopic dacryocystorhinostomies (eDCRs) show patency rates between 81% and 94%. However, dacryocystorhinostomy (DCR) failure and the need for revision remain a significant challenge. One of the principal challenges in revision eDCR is the need to surgically identify the correct osteotomy site and maintain long-term patency in the setting of previously instrumented and potentially scarred tissue. At the same time, the surgeon must assume that the blood supply to the commonly described anterior and posteriorly pedicled flaps has been compromised.

Objective: The objective of the study is to describe a novel flap technique for revision eDCR.

Methods: The superior based mucosal flap is a novel technique that provides a vascularized mucosa preserving technique in revision eDCR despite previous instrumentation of the lacrimal system. This technique provides wide exposure of the revision osteotomy site while simultaneously allowing a viable mucosal flap to be replaced at the conclusion of the procedure, thereby minimizing bone exposure and cicatricial restenosis.

Results: The authors have utilized this technique in 13 procedures with 100% positive identification of the lacrimal sac, a 0% complication rate, and a 100% success rate after a mean follow-up of 26.93 ± 10.33 months (range 6–35 months).

Conclusion: The eDCR using the superior pedicled mucosal flap provides excellent exposure of the maxillary bone and the lacrimal sac. This method preserves vascularity of the flap using a superiorly based pedicle which is typically inviolate during both open and endoscopic primary DCR. The mucosal flap can then be replaced, thereby minimizing bone exposure and optimizing patency.     

Amniotic Membrane Transplant for Bullous Keratopathy: Confocal Microscopy & Anterior Segment Optical Coherence Tomography

Purpose: To assess amniotic membrane retention after amniotic membrane transplant in bullous keratopathy patients and whether there were any corneal structural changes that may hinder further penetrating keratoplasty

Methods: A retrospective study including 22 patients who have undergone amniotic membrane transplant from 1 Jan 1998 till 30 Jun 2016. Confocal microscopy and anterior segment optical coherence tomography (ASOCT) were performed to assess the retention of amniotic membrane and to detect any corneal structural changes. The comparison was made with 5 controls who had bullous keratopathy awaiting endothelial keratoplasty.

Results: Patients had a mean follow-up of 61 ± 33.7 months. Pain reduction was significant (p < .001) although it did not significantly correlate with the regularity of the superficial, intermediate or basal epithelial layers, nor with the retention of the amniotic membrane. No long-term structural changes that may hinder future penetrating keratoplasty were detected.

Conclusion: This procedure is a safe and effective long-term treatment for symptomatic bullous keratopathy patients.     

Novel ocular findings in oculodentodigital dysplasia (ODDD): a case report and literature review

Background: Oculodentodigitaldysplasia (ODDD; MIM no. 164200) is a rare hereditary disorder caused by mutations in the gene GJA1.Ocular disorders included microcornea, cornea opacity and glaucoma. However, few studies described fundus findings.

Materials and methods: Ophthalmic examination included visual acuity measurement, intraocular pressure (IOP) measurements, slit-lamp biomicroscopy, B-scan ultrasonography, Ultrasound biomicroscopy (UBM), spectral-domain optical coherence tomography (SD-OCT), ERG and retcam fluorescein angiogram. In addition, blood samples were taken from this patient for mutation analyze of GJA1.

Result: The ophthalmic features of this patient were microcornea, cornea opacity, glaucoma as expected. Interestingly, the patient had a normal axial length with refractive status of emmetropia, but extremely retinal dysplasia and severe choroid thinning was noted. Flash electroretinogram (ERG) was extinguished in both eyes. This study identified a novel mutation c.91A>T in the GJA1 gene associated with fundus abnormalities. Bioinformatics and structural modeling suggested the mutation to be pathogenic.

Conclusion: Our research expanded not only the mutation spectrum, but also the clinical characteristics of ODDD. To the best of our knowledge, this is the first report on anatomical and functional chorioretinal changes in ODDD patients. These novel ocular features highlight the importance of fundus morphological and functional evaluation in ODDD.

Abbreviations: ODDD: oculodentodigital dysplasia; OCT: optical coherence tomography; ERG: electroretinogram; TACT: teller acuity card test; UBM: ultrasound biomicroscopy; MW: molecular weights; AL: axial length; Cx43: connexin 43; RPE: retinal pigment epithelium; RGCs: retinal ganglion cells; FEVR: familial exudative vitreoretinopathy; ROP: retinopathy of prematurity     

Excision of nodular basal cell carcinoma involving the lower eyelid tarsal skin using a grey line-splitting,posterior lamella-sparing technique

Purpose: To describe a posterior lamella-sparing technique to resect nodular basal cell carcinoma involving the inferior part of the tarsal skin of the lower eyelid.

Surgical Technique: Excision of nodular basal cell carcinoma of the tarsal skin using a grey-line-splitting technique with preservation of the posterior lamella. Specimen was sent for frozen section control. Additional excision was performed in caseof irradicality. The defect was closed with a free skin graft from the ipsi- or contralateral upper eyelid.

Results: We show a case series of three patients with lower eyelid basal cell carcinoma and investigated radicality on histology, aesthetic outcome and clinical recurrence during a follow-up of 18 months. Pre, intra, and postoperative photographs were obtained. In all cases radicality was reached. In all patients, the skin graft was viable, with no recurrence after 18 months. Excellent aesthetic results were obtained.

Conclusion: Anterior lamellar resection of nodular basal cell carcinomas involving the tarsal lower eyelid skin using a grey line lid-splitting technique is a simple and one-step technique with good clinical outcome. It may avoid the morbidity associated with full thickness eyelid resection and might be useful for other, nonmalignant eyelid lesions.     

Clinical and molecular findings of FRMD7 related congenital nystagmus as adifferential diagnosis of ocular albinism

Background: Congenital nystagmus is one of the most common neuro-ophthalmological disorders. X chromosome-linked forms are associated with pathogenic variants of the GPR143 and FRMD7 genes.

Materials and Methods: Patients’ DNA was analyzed using a next‐generation sequencing (NGS) panel of genes involved in albinism and related pathologies (TYR, OCA2, TYRP1, SLC45A2, SLC24A5, C10ORF11, GPR143, SLC38A8, HPS 1 to 10, LYST, MITF, FRMD7)

Results: We report a 4 generation family with 5 affected members initially referred for molecular diagnosis of ocular albinism. A missense variant of FRMD7 was found in 3 affected cases and one female carrier. We show that the disease in the affected girl is due to skewed inactivation of the X chromosome.

Conclusions: By compiling all the published cases we discuss the variable penetrance among females due to different types of mutation and to X-inactivation.     

Electrophysiological verification of enhanced S-cone syndrome caused by a novel c.755T>C NR2E3 missense variant

Background: Nuclear hormone receptor gene, NR2E3, plays a critical role in retinogenesis and determination of the rod photoreceptor phenotype. Mutations in NR2E3 typically lead to recessive enhanced S-cone syndrome (ESCS), where affected individuals show higher sensitivity to short wavelength light and early onset rod dysfunction. Patients with ESCS present in early childhood with nyctalopia, enhanced sensitivity to blue light and display a very heterogeneic retinal phenotype with varying degrees of clumped pigmentation and occasional retinoschisis.

Purpose: To confirm the pathogenicity of a novel mutation in NR2E3 using electrophysiological studies.

Materials and Methods: Patient underwent detailed clinical evaluation and ophthalmic imaging followed by next generation sequencing analysis and electrophysiological studies.

Results: We describe a case of a young man of Greek descent with a family history of retinal degeneration. His fundal features at presentation were atypical of ESCS, with striking macular involvement in both eyes, including fibrotic subretinal material overlying the pigment epithelial detachment in one eye and schisis in the other. Genetic testing revealed a novel homozygous variant in NR2E3 gene of uncertain pathogenicity. Instead of performing further genetic analyses, electrophysiological studies showed pathognomonic changes in the S-cone response.

Conclusions: With the recent clinical endorsement of a gene therapy for RPE65 related-inherited retinal degeneration it is of paramount importance to correctly identify the pathogenic genetic mutation. In this particular syndrome, we highlight the value of electrophysiology to confirm the pathogenicity of a novel mutation in NR2E3 and aid the diagnosis of ESCS, with potential for gene therapy in the future.