New Possible Clinical Variant of Syndrome Associating, Posterior Microphthalmos, Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen: Report Case and Review of the Literature

Said Iferkhass; Nihad Elhalouat; Hatim Boui; Anas Bouassel; Abdalkader Laktaoui

doi:doi:10.11648/j.ijovs.20180304.12

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New Possible Clinical Variant of Syndrome Associating, Posterior Microphthalmos, Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen: Report Case and Review of the Literature

Said Iferkhass, Nihad Elhalouat, Hatim Boui, Anas Bouassel, Abdalkader Laktaoui

Published in International Journal of Ophthalmology & Visual Science (Volume 3, Issue 4)

Received: 3 November 2018 Accepted: 15 November 2018 Published: 24 December 2018

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Abstract

To report a possible new clinical variant of the syndrome: posterior microphthalmia - retinitis pigmentosa – retinoschesis and papillary drusen and review the literature for this clinical entity. This is a 9 years old child without particular pathological story. His parents had had consanguineous marriage. His best visual acuity was improved to 3/10 with +16.00 SD (diopter spherical) OD (right eye) and 2/10 OS (left eye) with +17.00 SD. Anterior segment examination was normal. On the dilated fundus, we found a crowded optic disc associated to a bilateral maculopathy with white spots at the retinal periphery in the both eyes. Therefore we realized: Ultrasound imaging, Fluorescent angiography, Optical coherence tomography, and visual evoked potential with electroretinography. A and B scan ultrasonography revealed a posterior microphtalmia. Autofluorescence images and fluorescent angiography showed peripapillary atrophy with drusen. Optical coherence tomography (OCT) analysis of the macula at the vertical scan line revealed retinoschesis and prominent retinal fold in the papillomacular region. An OCT section across a retinal white spot shows a hyper-reflective deposit in the subretinal space, pushing the line of the photoreceptors. The electroretinogram showed a very marked decrease in rod response and cone hypovoltage in favor to retinal dystrophy compatible with retinitis pigmentosa. This case shows a new clinical variant of the posterior microphthalmia syndrome - retinitis pigmentosa, papillary drusen and retinoschisis described only once in the literature characterized by the presence of retinal white spots. In this clinical situation, the contribution of electroretinigraphy in diagnosis is crucial. From this clinical description other studies may be realized to discover the new gene mutations related to this entity.

Published in	International Journal of Ophthalmology & Visual Science (Volume 3, Issue 4)
DOI	10.11648/j.ijovs.20180304.12
Page(s)	55-59
Creative Commons	This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited.
Copyright	Copyright © The Author(s), 2024. Published by Science Publishing Group

Keywords

Posterior Microphthalmia, Retinitis Pigmentosa, Retinoschesis, Papillary Drusen, White Spots

References

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[9]	Ryckewaert M, Zanlonghi X, Bertrand-Cuigner H, Constantinides G − High hyperopia with papillomacular. fold. Ophtalmologica, 1992; 204: 49-53.
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[15]	Alberto Neri, 1 Rosachiara Leaci, 1 Juan C. Zenteno, 2, 3 Cristina Casubolo, 1 Elisabetta Delfini, 1 Claudio Macaluso1 Membrane frizzled-related protein gene–related ophthalmological syndrome: 30-month follow-up of a sporadic case and review of genotype-phenotype correlation in the literature . Molecular Vision 2012; 18: 2623-2632.
[16]	Buys YM, Pavlin CJ. Retinitis pigmentosa, nanophthalmos, andoptic disc drusen: A case report. Ophthalmology.1999; 106: 619–22.2.
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[18]	Juan Carlos Zenteno, Beatriz Buentello-Volante, Miguel A. Quiroz-González, andMiguel A. Quiroz-Reyes Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex . Mol Vis. 2009; 15: 1794–1798.
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APA Style

Said Iferkhass, Nihad Elhalouat, Hatim Boui, Anas Bouassel, Abdalkader Laktaoui. (2018). New Possible Clinical Variant of Syndrome Associating, Posterior Microphthalmos, Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen: Report Case and Review of the Literature. International Journal of Ophthalmology & Visual Science, 3(4), 55-59. https://doi.org/10.11648/j.ijovs.20180304.12

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ACS Style

Said Iferkhass; Nihad Elhalouat; Hatim Boui; Anas Bouassel; Abdalkader Laktaoui. New Possible Clinical Variant of Syndrome Associating, Posterior Microphthalmos, Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen: Report Case and Review of the Literature. Int. J. Ophthalmol. Vis. Sci. 2018, 3(4), 55-59. doi: 10.11648/j.ijovs.20180304.12

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AMA Style

Said Iferkhass, Nihad Elhalouat, Hatim Boui, Anas Bouassel, Abdalkader Laktaoui. New Possible Clinical Variant of Syndrome Associating, Posterior Microphthalmos, Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen: Report Case and Review of the Literature. Int J Ophthalmol Vis Sci. 2018;3(4):55-59. doi: 10.11648/j.ijovs.20180304.12

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@article{10.11648/j.ijovs.20180304.12,
  author = {Said Iferkhass and Nihad Elhalouat and Hatim Boui and Anas Bouassel and Abdalkader Laktaoui},
  title = {New Possible Clinical Variant of Syndrome Associating, Posterior Microphthalmos, Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen: Report Case and Review of the Literature},
  journal = {International Journal of Ophthalmology & Visual Science},
  volume = {3},
  number = {4},
  pages = {55-59},
  doi = {10.11648/j.ijovs.20180304.12},
  url = {https://doi.org/10.11648/j.ijovs.20180304.12},
  eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ijovs.20180304.12},
  abstract = {To report a possible new clinical variant of the syndrome: posterior microphthalmia - retinitis pigmentosa – retinoschesis and papillary drusen and review the literature for this clinical entity. This is a 9 years old child without particular pathological story. His parents had had consanguineous marriage. His best visual acuity was improved to 3/10 with +16.00 SD (diopter spherical) OD (right eye) and 2/10 OS (left eye) with +17.00 SD. Anterior segment examination was normal. On the dilated fundus, we found a crowded optic disc associated to a bilateral maculopathy with white spots at the retinal periphery in the both eyes. Therefore we realized: Ultrasound imaging, Fluorescent angiography, Optical coherence tomography, and visual evoked potential with electroretinography. A and B scan ultrasonography revealed a posterior microphtalmia. Autofluorescence images and fluorescent angiography showed peripapillary atrophy with drusen. Optical coherence tomography (OCT) analysis of the macula at the vertical scan line revealed retinoschesis and prominent retinal fold in the papillomacular region. An OCT section across a retinal white spot shows a hyper-reflective deposit in the subretinal space, pushing the line of the photoreceptors. The electroretinogram showed a very marked decrease in rod response and cone hypovoltage in favor to retinal dystrophy compatible with retinitis pigmentosa. This case shows a new clinical variant of the posterior microphthalmia syndrome - retinitis pigmentosa, papillary drusen and retinoschisis described only once in the literature characterized by the presence of retinal white spots. In this clinical situation, the contribution of electroretinigraphy in diagnosis is crucial. From this clinical description other studies may be realized to discover the new gene mutations related to this entity.},
 year = {2018}
}

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TY - JOUR
T1 - New Possible Clinical Variant of Syndrome Associating, Posterior Microphthalmos, Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen: Report Case and Review of the Literature
AU - Said Iferkhass
AU - Nihad Elhalouat
AU - Hatim Boui
AU - Anas Bouassel
AU - Abdalkader Laktaoui
Y1 - 2018/12/24
PY - 2018
N1 - https://doi.org/10.11648/j.ijovs.20180304.12
DO - 10.11648/j.ijovs.20180304.12
T2 - International Journal of Ophthalmology & Visual Science
JF - International Journal of Ophthalmology & Visual Science
JO - International Journal of Ophthalmology & Visual Science
SP - 55
EP - 59
PB - Science Publishing Group
SN - 2637-3858
UR - https://doi.org/10.11648/j.ijovs.20180304.12
AB - To report a possible new clinical variant of the syndrome: posterior microphthalmia - retinitis pigmentosa – retinoschesis and papillary drusen and review the literature for this clinical entity. This is a 9 years old child without particular pathological story. His parents had had consanguineous marriage. His best visual acuity was improved to 3/10 with +16.00 SD (diopter spherical) OD (right eye) and 2/10 OS (left eye) with +17.00 SD. Anterior segment examination was normal. On the dilated fundus, we found a crowded optic disc associated to a bilateral maculopathy with white spots at the retinal periphery in the both eyes. Therefore we realized: Ultrasound imaging, Fluorescent angiography, Optical coherence tomography, and visual evoked potential with electroretinography. A and B scan ultrasonography revealed a posterior microphtalmia. Autofluorescence images and fluorescent angiography showed peripapillary atrophy with drusen. Optical coherence tomography (OCT) analysis of the macula at the vertical scan line revealed retinoschesis and prominent retinal fold in the papillomacular region. An OCT section across a retinal white spot shows a hyper-reflective deposit in the subretinal space, pushing the line of the photoreceptors. The electroretinogram showed a very marked decrease in rod response and cone hypovoltage in favor to retinal dystrophy compatible with retinitis pigmentosa. This case shows a new clinical variant of the posterior microphthalmia syndrome - retinitis pigmentosa, papillary drusen and retinoschisis described only once in the literature characterized by the presence of retinal white spots. In this clinical situation, the contribution of electroretinigraphy in diagnosis is crucial. From this clinical description other studies may be realized to discover the new gene mutations related to this entity.
VL - 3
IS - 4
ER -

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Author Information

Said Iferkhass

Ophthalmology Department, Military Hospital My Ismail, Meknes, Morocco
Nihad Elhalouat

Ophthalmology Department, Military Hospital My Ismail, Meknes, Morocco
Hatim Boui

Ophthalmology Department, Military Hospital My Ismail, Meknes, Morocco
Anas Bouassel

Ophthalmology Department, Military Hospital My Ismail, Meknes, Morocco
Abdalkader Laktaoui

Ophthalmology Department, Military Hospital My Ismail, Meknes, Morocco

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APA Style

Said Iferkhass, Nihad Elhalouat, Hatim Boui, Anas Bouassel, Abdalkader Laktaoui. (2018). New Possible Clinical Variant of Syndrome Associating, Posterior Microphthalmos, Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen: Report Case and Review of the Literature. International Journal of Ophthalmology & Visual Science, 3(4), 55-59. https://doi.org/10.11648/j.ijovs.20180304.12

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ACS Style

Said Iferkhass; Nihad Elhalouat; Hatim Boui; Anas Bouassel; Abdalkader Laktaoui. New Possible Clinical Variant of Syndrome Associating, Posterior Microphthalmos, Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen: Report Case and Review of the Literature. Int. J. Ophthalmol. Vis. Sci. 2018, 3(4), 55-59. doi: 10.11648/j.ijovs.20180304.12

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AMA Style

Said Iferkhass, Nihad Elhalouat, Hatim Boui, Anas Bouassel, Abdalkader Laktaoui. New Possible Clinical Variant of Syndrome Associating, Posterior Microphthalmos, Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen: Report Case and Review of the Literature. Int J Ophthalmol Vis Sci. 2018;3(4):55-59. doi: 10.11648/j.ijovs.20180304.12

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@article{10.11648/j.ijovs.20180304.12,
  author = {Said Iferkhass and Nihad Elhalouat and Hatim Boui and Anas Bouassel and Abdalkader Laktaoui},
  title = {New Possible Clinical Variant of Syndrome Associating, Posterior Microphthalmos, Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen: Report Case and Review of the Literature},
  journal = {International Journal of Ophthalmology & Visual Science},
  volume = {3},
  number = {4},
  pages = {55-59},
  doi = {10.11648/j.ijovs.20180304.12},
  url = {https://doi.org/10.11648/j.ijovs.20180304.12},
  eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ijovs.20180304.12},
  abstract = {To report a possible new clinical variant of the syndrome: posterior microphthalmia - retinitis pigmentosa – retinoschesis and papillary drusen and review the literature for this clinical entity. This is a 9 years old child without particular pathological story. His parents had had consanguineous marriage. His best visual acuity was improved to 3/10 with +16.00 SD (diopter spherical) OD (right eye) and 2/10 OS (left eye) with +17.00 SD. Anterior segment examination was normal. On the dilated fundus, we found a crowded optic disc associated to a bilateral maculopathy with white spots at the retinal periphery in the both eyes. Therefore we realized: Ultrasound imaging, Fluorescent angiography, Optical coherence tomography, and visual evoked potential with electroretinography. A and B scan ultrasonography revealed a posterior microphtalmia. Autofluorescence images and fluorescent angiography showed peripapillary atrophy with drusen. Optical coherence tomography (OCT) analysis of the macula at the vertical scan line revealed retinoschesis and prominent retinal fold in the papillomacular region. An OCT section across a retinal white spot shows a hyper-reflective deposit in the subretinal space, pushing the line of the photoreceptors. The electroretinogram showed a very marked decrease in rod response and cone hypovoltage in favor to retinal dystrophy compatible with retinitis pigmentosa. This case shows a new clinical variant of the posterior microphthalmia syndrome - retinitis pigmentosa, papillary drusen and retinoschisis described only once in the literature characterized by the presence of retinal white spots. In this clinical situation, the contribution of electroretinigraphy in diagnosis is crucial. From this clinical description other studies may be realized to discover the new gene mutations related to this entity.},
 year = {2018}
}

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