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Aims/Purpose <p>To report and characterise a novel observation of ‘transient neonatal macular retinoschisis’ (TNMR) in a series of healthy, term infants, differentiate it from congenital pathologies, such as X-linked retinoschisis (XLRS).</p> Methods <p>This case series reports on five term neonates with incidental macular retinoschisis identified during a prospective developmental study or routine ophthalmic assessment. High-resolution spectral-domain optical coherence tomography (OCT) was used for initial imaging and for longitudinal follow-up over several months to monitor the findings.</p> Results <p>All five infants presented with macular retinoschisis, most commonly between the inner nuclear and inner plexiform layers. TNMR resolved spontaneously in all cases, with foveal anatomy appearing normal on follow-up imaging between 44 and 94 weeks post-menstrual age. In one infant with a family history of XLRS, complete resolution and negative <i>RS1</i> genetic testing ruled out the inherited condition.</p> Discussion <p>TNMR appears to be a self-limiting phenomenon. We explore its mechanistic relevance, proposing it is a benign variant of normal foveal maturation, offering new insight into this process. We consider its relevance to macular oedema in retinopathy of prematurity (ROP), suggesting a developmental continuum with changes in preterm infants. Spontaneous resolution is the key feature distinguishing TNMR from congenital conditions like XLRS. Recognition of this entity is clinically important to avoid misdiagnosis and unnecessary investigations.</p>

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Case series: Transient neonatal macular retinoschisis - a developmental phenomenon in term infants

  • 期刊论文

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  • 发表日期：

    2025年10月23日

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  • Ravi Purohit,
  • Helena Lee,
  • Lewis Smith,
  • Rachel Edminson,
  • Frank Proudlock,
  • Irene Gottlob,
  • Kanmin Xue,
  • Chetan K. Patel

摘要

Aims/Purpose

To report and characterise a novel observation of ‘transient neonatal macular retinoschisis’ (TNMR) in a series of healthy, term infants, differentiate it from congenital pathologies, such as X-linked retinoschisis (XLRS).

Methods

This case series reports on five term neonates with incidental macular retinoschisis identified during a prospective developmental study or routine ophthalmic assessment. High-resolution spectral-domain optical coherence tomography (OCT) was used for initial imaging and for longitudinal follow-up over several months to monitor the findings.

Results

All five infants presented with macular retinoschisis, most commonly between the inner nuclear and inner plexiform layers. TNMR resolved spontaneously in all cases, with foveal anatomy appearing normal on follow-up imaging between 44 and 94 weeks post-menstrual age. In one infant with a family history of XLRS, complete resolution and negative RS1 genetic testing ruled out the inherited condition.

Discussion

TNMR appears to be a self-limiting phenomenon. We explore its mechanistic relevance, proposing it is a benign variant of normal foveal maturation, offering new insight into this process. We consider its relevance to macular oedema in retinopathy of prematurity (ROP), suggesting a developmental continuum with changes in preterm infants. Spontaneous resolution is the key feature distinguishing TNMR from congenital conditions like XLRS. Recognition of this entity is clinically important to avoid misdiagnosis and unnecessary investigations.