Partial regression of peripapillary myelinated nerve fibers after non-arteritic anterior ischemic optic neuropathy.

A 71-year-old woman presented a non-arteritic anterior ischemic optic neuropathy in an optic nerve with previously registered superonasal peripapillary myelinated nerve fibers. Her past medical history was significant for controlled systemic hypertension, hyperlipidemia, and diabetes mellitus. The physiologic cup was absent in both optic discs. Non-arteritic anterior ischemic optic neuropathy mainly affected the temporal and inferior sectors of the peripapillary retinal nerve fiber layer, as could be demonstrated by retinal nerve fiber layer optical coherence tomography and optic disc optical coherence tomography angiography. Unlike other published reports, just a slight regression of the myelinated nerve fibers was observed after 1 year of follow-up. This occurred because ischemia mainly affected the temporal and inferior peripapillary sectors, whereas myelinated nerve fibers were superonasal to the optic disc.

Partial regression of peripapillary myelinated nerve fibers after non-arteritic anterior ischemic optic neuropathy / Regressão parcial das fibras nervosas peripapilares mielinizadas após neuropatia óptica isquêmica anterior não arterítica

ABSTRACT A 71-year-old woman presented a non-arteritic anterior ischemic optic neuropathy in an optic nerve with previously registered superonasal peripapillary myelinated nerve fibers. Her past medical history was significant for controlled systemic hypertension, hyperlipidemia, and diabetes mellitus. The physiologic cup was absent in both optic discs. Non-arteritic anterior ischemic optic neuropathy mainly affected the temporal and inferior sectors of the peripapillary retinal nerve fiber layer, as could be demonstrated by retinal nerve fiber layer optical coherence tomography and optic disc optical coherence tomography angiography. Unlike other published reports, just a slight regression of the myelinated nerve fibers was observed after 1 year of follow-up. This occurred because ischemia mainly affected the temporal and inferior peripapillary sectors, whereas myelinated nerve fibers were superonasal to the optic disc.

RESUMO Uma mulher de 71 anos de idade apresentou neuropatia óptica isquêmica anterior não arterítica no nervo óptico com fibras nervosas peripapilares mielinizadas previamente registradas. Seu histórico médico foi significativo para hipertensão arterial sistêmica controlada, hiperlipidemia e diabetes mellitus. Em ambos os discos ópticos, a tacícula fisiológica esteve ausente. A neuropatia óptica isquêmica anterior não arterítica afetou principalmente os setores temporal e inferior da camada de fibras nervosas da retina peripapilar, como demonstrado pela tomografia de coerência óptica da camada de fibras nervosas da retina e pela angiotomografia de coerência óptica do disco óptico. Ao contrário de outros relatórios publicados, apenas uma ligeira regressão das fibras nervosas mielinizadas foi observada após um ano de acompanhamento. Isto pode ser explicado pelo fato da isquemia ter afetado principalmente os setores temporal e inferior peripapilares, enquanto as fibras nervosas de mielina eram nasal superior ao disco óptico.

Bézier curves as a total approach to measure the upper lid contour: redefining clinical outcomes in palpebral surgery.

AIMS: To define and quantify the upper lid contour by adapting Bézier curves with a newly developed software in normal subjects, assessing their reliability. METHODS: Fifty eyes of 50 healthy patients with no ocular pathology were included in this study from October 2020 to November 2020. All measurements were performed on Bézier curves adjusted to the upper lid contour. An original software was used to measure the radial and vertical midpupil-to-lid margin distances (MPLD), temporal-to-nasal (T/N) ratios, contour peak location and grade of superposition (GS) and asymmetry (GA) indexes. We calculated differences in the variables measured regarding age, gender or the side of the eye being assessed. RESULTS: The mean Bézier curve showed an excellent level of inter-rater reliability (intraclass correlation coefficient of 0.99). The median GS index of each eyelid to the mean Bézier curve was 95.4%, 8.5 IQR, and the median GA index was 3%, 3.4 IQR. The mean contour peak location was -0.35 mm, SD 0.45. Overall, the mean central MPLD was 4.1 mm, SD 0.6. No significant differences were found between male and female patients in variables derived from Bézier curves. CONCLUSION: Bézier curves may become a very useful tool for the assessment of upper lid contour, contour peak and symmetry. GS and GA indexes, along with the T/N area ratio are potential outcomes for this purpose. All current variables can be obtained just from one single Bézier curve measurement. Our results offer an in-depth exhaustive description of these variables and their distribution in the normal population.

Müllerotomy with anterior graded Müller muscle disinsertion for Graves upper eyelid retraction: validation of surgical outcomes using Bézier curves.

PURPOSE: To assess with Bézier curves the outcomes of Müllerotomy with anterior graded Müller muscle disinsertion for the treatment of Graves upper eyelid retraction (UER). METHODS: Eighty-six eyelids of 52 inactive GO patients operated from November 2018 to June 2021 were included in this study. All measurements were performed on Bézier curves adjusted to the upper lid contour with a previously validated algorithm. Lid contour was classified regarding grade of superposition (GS) as excellent (GS > 90%), good (GS 85-90%) or poor (< 85%). Surgical success was defined as complete or partial if postoperative grade of asymmetry was < 10% with an excellent or good lid contour, respectively. RESULTS: The mean age was 51 ± 10.4 years with a range from 31 to 78 years and a mean follow-up of 14.4 ± 7.4 months. There was a significant improvement of median GS (p < 0.0001) from preoperative (74.3%; 10.7 IQR) to postoperative values (91.7%; 6.3 IQR). A normalization of postoperative contour peak (- 0.69; 1.27 SD) and MPLD90 (4.2 mm; 0.8 SD) was noticed (p < 0.0001). Postoperative lid contour was excellent in 62 (72%), good in 16 (19%) and poor in 8 eyelids (9%). Surgical success was achieved in 42 patients (81%), from which 34 (81%) were complete. Reintervention was required in 14 eyelids (16%). CONCLUSIONS: Measuring surgical outcomes with Bézier curves allows an automated, complete and objective assessment, giving more consistency to our data compared to previous reports. Müllerotomy with graded Müller muscle disinsertion is a safe and effective procedure for Graves UER, offering predictable results.

Changes in ocular surface after withdrawal of anti-glaucoma medications following non-penetrating deep sclerectomy.

Purpose: : To analyze the ocular surface changes in eyes after the withdrawal of anti-glaucomatous drugs when non-penetrating deep sclerectomy (NPDS) is performed. Methods: Thirty-one patients (33 eyes) diagnosed with glaucoma that underwent NPDS were included in this prospective study. The control group included 33 eyes. Four variables were studied using Keratograph 5M (K5M): ocular hyperemia (OH), non-invasive tear film break-up time (NI-BUT), lower tear meniscus height (LTMH), and meibography. LTMH was also measured using the anterior segment module of a Spectralis Fourier-domain optical coherence tomography (FD-OCT) instrument. Moreover, an evaluation of corneal and conjunctival staining was performed. In the glaucoma group, five visits were carried out: pre-surgery, 1 week after surgery, and 1 month, 3 months, and 6 months after surgery. In control groups, examinations were performed in only one visit. In addition, patients were asked to answer two questionnaires: Ocular Surface Disease Index (OSDI) and National Eye Institute Visual Functioning Questionnaire (NEI VFQ-25) before and 6 months after surgery. Results: Before NPDS, eyes showed worse objective data than healthy control subjects (P ≤ 0.049). In this group, a significant improvement was observed in questionnaire responses (P < 0.001), LTMH-FD-OCT (P = 0.037), LTMH-K5M (P = 0.025), K5M-OH (P = 0.003), NI-BUT (P = 0.022), and conjunctival and corneal staining (P < 0.001). No significant differences were observed between groups in FD-OCT and K5M LTMH, NI-BUT, corneal-conjunctival staining, nor in the most OH sector values at 6 months (P ≥ 0.62). Conclusion: A significant improvement in the ocular surface was observed 6 months after NPDS, suggesting that the withdrawal of the topical anti-glaucomatous treatment had a beneficial effect on the subjects.

Avoiding mask-related artefacts in visual field tests during the COVID-19 pandemic.

AIMS: To assess visual field (VF) pseudoprogression related to face mask use. METHODS: We reviewed a total of 307 VFs performed with a face mask (FPP2/KN95 or surgical masks) and compared them with prior VFs, performed before the pandemic. VFs with suspected pseudoprogression due to mask artefacts (VF test 1) were repeated with a surgical mask and an adhesive tape on its superior border (VF test 2) to distinguish from true VF loss. Several parameters including reliability indices, test duration, VF index (VFI), mean defect (MD) and pattern deviation probability plots were compared among last pre-COVID VFs, VF tests 1 and VF tests 2, using the Wilcoxon signed-rank test. RESULTS: We identified 18 VFs with suspected progression artefact due to masks (5.8%). In all of them, the median VFI and MD significantly improved after fitting the superior border of the mask, showing no significant differences with pre-COVID tests. The median fixation losses were significantly higher when wearing the unfitted mask (13% vs 6%,p=0.047). The inferior hemifield was the most affected, either as a new scotoma or as an enlargement of a prior defect. CONCLUSION: Unfitted masks can simulate VF progression in around 6% of cases, mainly in the inferior hemifield, and increase significantly the rate of fixation losses. A similar rate of artefacts was observed using FPP2/KN95 or surgical masks. The use of a surgical mask with an adhesive tape covering the superior border may reduce mask-related artefacts, although concomitant progression cannot be ruled out in all cases.

Changes in eyelid position after glaucoma filtering surgery.

BACKGROUND: While ptosis is a well-known consequence of glaucoma surgery, some isolated case reports point to the possibility of upper eyelid retraction occurring after glaucoma surgery. This study aims to analyze the occurrence of ptosis and eyelid retraction after glaucoma surgery and to evaluate factors contributing to these palpebral fissure changes. METHODS: Cross-sectional study including 100 eyes of 100 patients that had undergone unilateral glaucoma surgery. Upper eyelid height in the operated eye was measured by digital photography and compared with the fellow, non-operated eye. The main outcome was to determine if ptosis or retraction occurred in the operated eye in comparison with the fellow eye. The secondary outcome was to determine if any variable was associated with ptosis or retraction. A clinically significant difference (either toward ptosis or retraction) was defined as a difference ≥1 mm between both eyes. RESULTS: Of 100 eyes included 81 (81%) showed no change in eyelid height (-0.133 mm ± 0.496), 11 (11%) showed ptosis (-1.348 mm ± 0.387) and 8 eyes (8%) showed retraction (1.705 ± 0.634). A statistically significant relation was found between ptosis and pseudoexfoliation glaucoma (p = 0.003). A trend toward lower postoperative IOP and higher conjunctival blebs was found in eyes with postoperative eyelid retraction. CONCLUSIONS: Eyelid retraction was present in 8% of patients and ptosis in 11%. Patients with eyelid retraction showed around a 3 mmHg lower postoperative IOP than eyes without retraction. The presence of pseudoexfoliation may be a risk factor for this complication. A prospective study with a large number of patients would be required to confirm these results.

APOSTEL 2.0 Recommendations for Reporting Quantitative Optical Coherence Tomography Studies.

OBJECTIVE: To update the consensus recommendations for reporting of quantitative optical coherence tomography (OCT) study results, thus revising the previously published Advised Protocol for OCT Study Terminology and Elements (APOSTEL) recommendations. METHODS: To identify studies reporting quantitative OCT results, we performed a PubMed search for the terms "quantitative" and "optical coherence tomography" from 2015 to 2017. Corresponding authors of the identified publications were invited to provide feedback on the initial APOSTEL recommendations via online surveys following the principle of a modified Delphi method. The results were evaluated and discussed by a panel of experts and changes to the initial recommendations were proposed. A final survey was recirculated among the corresponding authors to obtain a majority vote on the proposed changes. RESULTS: A total of 116 authors participated in the surveys, resulting in 15 suggestions, of which 12 were finally accepted and incorporated into an updated 9-point checklist. We harmonized the nomenclature of the outer retinal layers, added the exact area of measurement to the description of volume scans, and suggested reporting device-specific features. We advised to address potential bias in manual segmentation or manual correction of segmentation errors. References to specific reporting guidelines and room light conditions were removed. The participants' consensus with the recommendations increased from 80% for the previous APOSTEL version to greater than 90%. CONCLUSIONS: The modified Delphi method resulted in an expert-led guideline (evidence Class III; Grading of Recommendations, Assessment, Development and Evaluations [GRADE] criteria) concerning study protocol, acquisition device, acquisition settings, scanning protocol, funduscopic imaging, postacquisition data selection, postacquisition analysis, nomenclature and abbreviations, and statistical approach. It will be essential to update these recommendations to new research and practices regularly.

Enhanced Depth Imaging Optical Coherence Tomography Technology Reveals a Significant Association Between Optic Nerve Drusen Anterior Displacement and Retinal Nerve Fiber Layer Thinning Over Time.

BACKGROUND: Optic disc drusen (ODD) are a dynamic phenomenon, and their appearance, size, and relative location may change. The purpose of this study is to evaluate and quantify the longitudinal changes of buried ODD with enhanced depth imaging (EDI) optical coherence tomography (OCT) over time. METHODS: ODD were analyzed with Spectralis OCT (Heidelberg Engineering, Heidelberg, Germany) and EDI technology. The peripapillary retinal nerve fiber layer (RNFL) thickness was also measured. The size and depth of ODD were compared between the baseline and study visit (at least 2 years of follow-up), and the changes were correlated with mean RNFL thickness. The repeatability, coefficient of variation, and cutoff values for size and depth on EDI-OCT were calculated. RESULTS: Of 21 previously identified patients with ODD, only 12 patients (21 eyes) met the most recent diagnostic criteria according to the ODD Studies Consortium recommendations for using OCT-EDI technology. The 21 eyes were reanalyzed after a mean period of 44.7 ± 13.2 months (range: 24-71 months). Overall, 132 ODD were evaluated with a mean of 6.1 ± 2.5 ODD per eye and 1.9 ± 1.1 ODD per scan. Overall, we found a significant forward movement of the drusen between visits (P = 0.01). Most drusen (67.4%) moved anteriorly, and in approximately one-third (35.6%), this displacement exceeded the cutoff value (64.28 µm). Furthermore, we found a significant correlation between ODD shallowing and RNFL thinning during the follow-up (P ≤ 0.03; R ≥ 0.370). We did not find any significant changes in size measurements (P = 0.10) over time. CONCLUSIONS: In approximately one-third of buried ODD, a significant anterior movement occurred over 2 years of follow-up, and this movement was associated with significant RNFL thinning. By contrast, no significant change was detected in the size of the buried ODD.

Multidisciplinary protocol of preoperative and surgical management of patients with pituitary tumors candidates to pituitary surgery.

The optimal planning of preoperative diagnosis, management and treatment of pituitary tumors (PT) candidates to pituitary surgery (PS) requires a multidisciplinary approach involving a team of endocrinologists, neurosurgeons, ENT, neuro-ophthalmologists and neuroradiologists with experience in pituitary diseases. Such teams improve surgical results, minimize complications and facilitate their correct treatment if occurring, and optimize the hormonal, ophthalmological and radiological preoperative and follow-up evaluation. We have developed a clinical practice protocol for patients with PT who are candidates to PS based on the most recent national and international guidelines and the relevant literature regarding PT published in the last years. The protocol has been elaborated by a multidisciplinary team of a Spanish Pituitary Tumor Center of Excellence (PTCE) that includes at least one neurosurgeon, ENT, neuroradiologist, neuro-ophthalmologist, endocrine pathologist and endocrinologist specialized in pituitary diseases. We elaborated this guideline with the aim of sharing our experience with other centers involved in the perioperative and surgical management of PT thereby facilitating the management of patients undergoing PS.

Bilateral decompression retinopathy after deep sclerectomy with mitomycin C in a child with tubulointerstitial nephritis and uveitis syndrome.

INTRODUCTION: To report the first case of bilateral ocular decompression retinopathy after uneventful non-perforating deep sclerectomy with mitomycin C in a child with tubulointerstitial nephritis and uveitis syndrome. CASE DESCRIPTION: An 8-year-old girl affected by tubulointerstitial nephritis and uveitis syndrome developed ocular hypertension (45 mmHg in the right eye and 42 mmHg in the left eye) associated with recurrent episodes of uveitis and chronic use of steroids despite maximum hypotensive medical treatment. Bilateral non-perforating deep sclerectomy with mitomycin C (0.2 mg/mL, 1 min) was performed under general anesthesia without complications. The first postoperative day, the visual acuity was reduced to 0.6 in the right eye and 0.05 in the left eye and the intraocular pressure was 3 mmHg in both eyes. Fundoscopy revealed bilateral optic nerve swelling and diffuse retinal hemorrhages, some of them with scattered-white centers. About 2 months after surgery, the visual acuity was normal and the fundus examination showed complete resolution. CONCLUSION: The ocular decompression retinopathy is an uncommon complication after non-perforating deep sclerectomy. This is the first case of bilateral ocular decompression retinopathy reported after non-perforating deep sclerectomy in a child with ocular hypertension secondary to recurrent uveitis and chronic use of steroids associated with tubulointerstitial nephritis and uveitis syndrome.

Reduced Peripapillary and Macular Vessel Density in Unilateral Postgeniculate Lesions With Retrograde Transsynaptic Degeneration.

BACKGROUND: Retrograde transsynaptic degeneration (RTSD) of the retinal ganglion cells and retinal nerve fiber layer after postgeniculate injury has been well documented, but to the best of our knowledge, associated retinal microvascular changes have not been examined. The purpose of our study was to assess vessel density (VD) at macular and peripapillary regions in patients with RTSD. METHODS: Cross-sectional study including 16 patients with homonymous visual field defects secondary to unilateral postgeniculate visual pathway injury and 18 age-matched controls. All participants were examined with AngioVue optical coherence tomography angiography to measure the peripapillary vessel density and macular vessel density (pVD/mVD) as well as the peripapillary retinal nerve fiber layer (pRNFL) and macular ganglion cell complex (GCC) thicknesses. The pRNFL and macular ganglion cell-inner plexiform layer (GCIPL) thicknesses also were evaluated using Cirrus OCT. A normalized asymmetry score (NAS) was calculated for GCIPL and GCC thickness, and mVD. RESULTS: Average pRNFL and macular GCIPL/GCC thicknesses were significantly thinner in both eyes of patients compared with control eyes (all P ≤ 0.05). Eight patients (50%), who showed a RTSD of the GCIPL map, had a relative thinning of the GCIPL/GCC ipsilateral to the brain lesion in both eyes (represented by a positive GCIPL-NAS/GCC-NAS). The mean pVD and mVD also were significantly reduced in patients (all P ≤ 0.05). There was a strong correlation between GCIPL-NAS/GCC-NAS and mVD-NAS index in both eyes (all r > 0.7, P = 0.001). Furthermore, there was a similar spatial pattern of damage for the macular GCC thickness and VD values. CONCLUSIONS: We demonstrated a significant VD decrease in peripapillary and macular areas of patients with RTSD because of postgeniculate lesions. The structural and microvascular asymmetry indexes were significantly correlated. These findings provide new insights regarding transsynaptic degeneration of the visual system.

A comparison of two optical coherence tomography-angiography devices in pseudoexfoliation glaucoma versus primary open-angle glaucoma and healthy subjects.

PURPOSE: To compare peripapillary vascular parameters derived from two optical coherence tomography angiography devices in pseudoexfoliation glaucoma, primary open-angle glaucoma, and healthy controls and to evaluate their diagnostic accuracy. METHODS: Observational, cross-sectional study. In total, 20 eyes with pseudoexfoliation glaucoma, 20 primary open-angle glaucoma eyes matched by peripapillary retinal nerve fiber layer thickness, and 20 control eyes were recruited. Participants underwent standard automated perimetry and peripapillary retinal nerve fiber layer analysis by Optovue and Cirrus optical coherence tomography. Vascular parameters provided by Angiovue and Angioplex optical coherence tomography angiography were compared. Their diagnostic accuracy and correlation with structural and functional parameters were assessed. RESULTS: All peripapillary optical coherence tomography angiography vascular parameters were significantly different among groups (all p < 0.05). The whole image capillary density and peripapillary capillary density by Angiovue were significantly lower in pseudoexfoliation glaucoma compared with primary open-angle glaucoma (p = 0.009 and p = 0.001, respectively). Conversely, vascular parameters by Angioplex were not statistically different between primary open-angle glaucoma and pseudoexfoliation glaucoma. A good correlation was found using Angiovue between whole image capillary density and visual field mean deviation (0.758, p < 0.001), peripapillary capillary density and visual field mean deviation (0.729, p = 0.001), and peripapillary capillary density and peripapillary retinal nerve fiber layer thickness in eyes with pseudoexfoliation glaucoma (0.716, p = 0.001). Angiovue parameters showed higher area under the receiver operating characteristic curves than Angioplex to discriminate among groups. CONCLUSION: Only Angiovue detected a significantly lower capillary density in pseudoexfoliation glaucoma compared to primary open-angle glaucoma at similar glaucoma damage. Both, Angiovue and Angioplex demonstrated a decreased capillary density in glaucoma eyes compared to healthy eyes. Furthermore, Angiovue-derived vascular parameters showed better correlation with functional and structural parameters and a higher diagnostic capacity to discriminate among groups compared to Angioplex.

Lamina cribrosa position and Bruch's membrane opening differences between anterior ischemic optic neuropathy and open-angle glaucoma.

PURPOSE:: To compare the optic nerve head morphology among primary open-angle glaucoma, non-arteritic anterior ischemic optic neuropathy eyes, their fellow healthy eyes and control eyes, using spectral-domain optical coherence tomography with enhanced depth imaging. METHODS:: Observational cross-sectional study including 88 eyes of 68 patients. In this study, 23 non-arteritic anterior ischemic optic neuropathy eyes, 17 fellow unaffected eyes, 25 primary open-angle glaucoma eyes, and 23 age-matched control eyes were included. Peripapillary retinal nerve fiber layer thickness and optic disk area were evaluated. Bruch's membrane opening diameter, optic cup depth, anterior lamina cribrosa depth, and prelaminar tissue thickness were assessed. RESULTS:: Non-arteritic anterior ischemic optic neuropathy and primary open-angle glaucoma eyes had similar visual field mean deviation and peripapillary retinal nerve fiber layer thickness (P = 0.6 and P = 0.56, respectively). Bruch's membrane opening diameter was significantly larger in primary open-angle glaucoma eyes than in control eyes (P = 0.02). Lamina cribrosa and disk cup were deeper in eyes with primary open-angle glaucoma than both control and non-arteritic anterior ischemic optic neuropathy eyes (P < 0.001). Prelaminar tissue thickness was significantly thinner in primary open-angle glaucoma eyes than in non-arteritic anterior ischemic optic neuropathy eyes (P < 0.001). Lamina cribrosa was shallower in both non-arteritic anterior ischemic optic neuropathy and unaffected fellow eyes compared to healthy eyes (P < 0.001 and P = 0.04, respectively). No differences were found in the optic disk area. CONCLUSION:: A forward lamina cribrosa placement and not a smaller disk could be involved in the pathogenesis of non-arteritic anterior ischemic optic neuropathy. A significantly larger Bruch's membrane opening diameter was found in primary open-angle glaucoma eyes compared with control eyes. This issue has clinical implications because Bruch's membrane opening has been considered a stable reference for disk-related measures.

Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia.

Mutations in PAX6 are involved in several developmental eye disorders. These disorders have considerable phenotypic variability, ranging from panocular forms of congenital aniridia and microphthalmia to isolated anomalies of the anterior or posterior segment. Here, we describe 3 families with variable inter-generational ocular expression of aniridia, iris coloboma, or microphthalmia, and an unusual transmission of PAX6 mutations from an unaffected or mildly affected parent; all of which raised suspicion of gonosomal mosaicism. We first identified two previously known nonsense mutations and one novel likely pathogenic missense variant in PAX6 in probands by means of targeted NGS. The subsequent segregation analysis by Sanger sequencing evidenced the presence of highly probable mosaic events in paternal blood samples. Mosaicism was further confirmed by droplet digital PCR analysis in several somatic tissues of mosaic fathers. Quantification of the mutant allele fraction in parental samples showed a marked deviation from 50%, with a range between 12 and 29% depending on cell type. Gonosomal mosaicsm was definitively confirmed in one of the families thanks to the availability of a sperm sample from the mosaic father. Thus, the recurrence risk in this family was estimated to be about one-third. This is the first report confirming parental PAX6 mosaicism as a cause of disease recurrence in aniridia and other related phenotypes. In addition, we demonstrated that post-zygotic mosaicism is a frequent and underestimated pathogenic mechanism in aniridia, explaining intra-familial phenotypic variability in many cases. Our findings may have substantial implications for genetic counseling in congenital aniridia. Thus, we also highlight the importance of comprehensive genetic screening of parents for new sporadic cases with aniridia or related developmental eye disease to more accurately assess recurrence risk. In conclusion, somatic and/or gonosomal mosaicism should be taken into consideration as a genetic factor to explain not only families with unaffected parents despite multiple affected children but also variable expressivity, apparent de novo cases, and even uncharacterized cases of aniridia and related developmental eye disorders, apparently lacking PAX6 mutations.

Mapping the Structure-Function Relationship in Glaucoma and Healthy Patients Measured with Spectralis OCT and Humphrey Perimetry.

PURPOSE: To study the structure-function relationship in glaucoma and healthy patients assessed with Spectralis OCT and Humphrey perimetry using new statistical approaches. MATERIALS AND METHODS: Eighty-five eyes were prospectively selected and divided into 2 groups: glaucoma (44) and healthy patients (41). Three different statistical approaches were carried out: (1) factor analysis of the threshold sensitivities (dB) (automated perimetry) and the macular thickness (µm) (Spectralis OCT), subsequently applying Pearson's correlation to the obtained regions, (2) nonparametric regression analysis relating the values in each pair of regions that showed significant correlation, and (3) nonparametric spatial regressions using three models designed for the purpose of this study. RESULTS: In the glaucoma group, a map that relates structural and functional damage was drawn. The strongest correlation with visual fields was observed in the peripheral nasal region of both superior and inferior hemigrids (r = 0.602 and r = 0.458, resp.). The estimated functions obtained with the nonparametric regressions provided the mean sensitivity that corresponds to each given macular thickness. These functions allowed for accurate characterization of the structure-function relationship. CONCLUSIONS: Both maps and point-to-point functions obtained linking structure and function damage contribute to a better understanding of this relationship and may help in the future to improve glaucoma diagnosis.